MRCPCH MasterCourse 2 Volume Set 1st Edition

Contents
Foreword v
Preface vii
How to use this book IX
Index of DVD clips xi
Module editors xiii
Contributors xv
Abbreviations xix
MODULE 1: Normal children and child

health 1
Jonathan Darling
1. Child health in a changing society 3

Alan Craft
2. Child development and developmental
problems 8
Delyth Howard
3. Psychological and emotional
development 18
Melanie Epstein
4. Nutrition, infant feeding and
weaning 24
Chenotte Wright, Alison Kelly, Unda Wo~son
MODULE 2: Toolkit for child health

and disease 35
Jonathan Darling
5. History-taking and physical

examination 37
Mark Bradbury, Alan Cade
xxiii
6. Diagnosis and management 54
Ragbir Thethy
7. Communication skills 63
Richard Hain, John Hain
8. Evaluation of the newborn 71
Colin Morgan
9. Clinical genetics 86
Mark Davies, Angus Clarke
10. Pharmacology and therapeutics 101
Imti Choonara
11. Ethics and children's rights 108
Julie-Clare Becher, Neil McIntosh
12. Practical procedures and
investigations 116
Jonathan Darling
13. Evidence-based paediatrics and
audit 125
David Evans. Alison Pike
MODULE 3: Child public health 137

Mitch Blair, Mary Rudolf
14. Epidemiology 139

Rachel Crowther
15. Screening 159
Rachel Crowther
16. Immunization 170
Kathleen Skinner
17. Health promotion and disease
prevention 177
Rachel Crowther
MODULE 4: Community child health 191

Mary Rudolf, Mitch Blair
18. Childhood disability 193

Valerie Harpin. Sue Gentle
19. Adolescent health and health
problems 203
Aidan MacFarlane
xxiv
20. Emotional and behavioural problems:
primary care aspects 210
Melanie Epstein
21. Child protection in the
community 222
Malcolm Levene. Amanda Thomas,
Neela Shabde
MODULE 5: Common problems in primary

care 233
Malcolm Levene
22. Growth: normal and abnonTIal 235

Mary Rudo~
23. Heart and lung disorders 262
Simon Frazer
24. Brain and movement disorders 283
Arnab Seal, Gillian Robinson
25. Abdominal disorders 304
Nigel Kennedy
26. Disorders of the urinary tract 324
Ed Peile
27. Skin disorders 342
Malcolm Levene
Index 351
xxv
Rachel Crowther
Health promotion and 17

disease prevention
Learning outcomes 177
Health and health improvement 177
Disease prevention 179
HealU, promotion 181
Examples of health promotion and disease prevention in key
areas of child health 184
Universal and targeted approaches 188
Improving health in everyday practice 189
• • •
By the end of this chapter you should:
• Understand the terms health promotion, disease prevention and health protection, and
how these relate to different definitions of health
• Understand the importance of thinking 'upstream' about the determinants of health
- 'prevention is better than cure'
• Understand why improving the health of the population is everyone's concern and the
importance of partnership working to improve health
• Know about different approaches to improving health
• Appreciate the different levels at which health promotion and disease prevention can
operate
• Be able to suggest examples of health promotion and disease prevention at various
levels for different conditions
• Understand the difference between universal and targeted approaches to health -I
•
promotion and disease prevention and the 'population paradox'
Be aware of opportunities for health promotion in everyday practice, and the skills
:I
required to be a health-promoting doctor. :D
m
m
you undCfSl.lmJ by the following lerlm, which will be
Health and health explored ill Ihis ch"pler. I low e.1SY is it to come up wilh
succinct definitions?
improvement • IICdith
Definitiono; and meanings an' imponam in thc drca of • Health improvemem
hc,llth promolion dlld prt:\'cnti\'e hCdllh "Ul' bl-'GUISC • I h'ahh promolion
they hell) lO i(\(-rllify what we Me trying to achieve • Ile<llth prolcclion
Ikfore reading funher, think for a moment about whal • Di~CiIs(' prl'\:('I,linn 177
Valerie Harpin Sue Gentle CHAPTER
Childhood disability 18
Concepts of disability and terminology 193
Cultural attitudes to disability 194
The epidemiology of disability 195
Developmental problems and disability in primary care 195
Agencies with a responsibility for childhood disability 199
Specific conditions causing disability 202
.- • •
By the end 01 this chapter you should:
Understand concepts of disability and be familiar with the terminology in use
Be aware of cultural attitudes to disability
Know the causes of disability in childhood
Be able to identify abnormal patterns of development
Know when further assessment and investigation is required
Understand the need for a multidisciplinary approach to management
Appreciate the impact that disability has on the family ~
Know about the role that various agencies have in providing services for the child with o
a disability. o
c::
r-
Concepts of disability and definitions of these terms based on the \'\'orld Ilcalth
m
Organiz..1lion (WIIO) Intnnatioll<ll C.LI~siti(,tlioll of
terminology Imp<lirnu:nt.., Di~<lhilities and Ilandicaps (IUIlII). I low
Refore CtJllsi{krillg clinical <l~peCl~ of disability we do these definitions compare with yours?
need to think about what the terminology uSf'd in The distinction between disability 'Illd 11IIndicap is
relation to disability means and why this might be particulMly important One of our aims when looking
important. Thert: arc three groul"> of rteople who after children h'ilh disabilities should be to minimiLc
nt"t'd to hf' tonsidered: our fellow profe~ionals with the handicap that results from that disdbility. It i" abo
whom we need 10 be able to communicate clearly, and important to cullsidcr how pt"ople wilh dis<lhility are
importantly the children or young pt:oplc dnd their perceived by wdety: some dis.1bled people say Ihat the
parents who n«d to understand the terms we use \'o'e handicap lies in socicty, not with thelll. \\o'c GIll hell) by
need to avoid terms 10 which stigma is attached. Sadly helping the child to overcome or compen~lll" for the
many words pn:viously used by profo;sionals lIlay disability and by advocating for changes in altitudes to
now be lenTIS of abuse in the playground, e.g. 'spastic', disability in socicty.
'cretin' or 'retarded'. Some par~tHs prefer to de<>eribe Iheir child .1S a
!'our COlllmon terms used in itssoci<ltion witll children child with '''pee;"l needs' rather than as either dis.1bled
with dlSilhility are disord<':r, impainnem, disability and or handicapped 111is terminology is also widely used by
handicap (ilox 18.1). In ·'able 18.1 you will see accepted professiOlMIs. not only in discussion~ with (;unillcs. 11m 193
Aidan MacFarlane CHAPTER
Adolescent health and 19

health problems
What is adolescence? 203
Sex and sexually transmitted infections 203
Eating disorders 206
Substance abuse 208
Acne 209
.. •
Understand and be able to apply the concepts of 'confidentiality' and 'informed
consent' when dealing with adolescents
Understand why the needs of adolescents may be different from those of children!
adults
Know broadly what health problems are more specific to adolescents
Have the skills and sensitivity to deal with the emotional and information needs of
young people when they consult you
Have the skills to diagnose and treat specific disorders relating to adolescence.
What is adolescence? • Common medical conditions of adolescence

(induding acne, common orthopaedic diseases,
A definition of adolescence functional/psychosomatic disorders, sleep
disorders. fatigue and chronic f<lliguc
Adolescence begins with the onset of physiologically syndrome) 'T1
normal puberty, and end~ when an adult identity and
behaviour are <lccepted. This period of development
• Chronic conditions/disabilities (Chs 29 and 11)
o
corrl:sponJ~ roughly to the period between the ages of
10 (from the begillililigofthe 10th year) and runs till
• Mental health problems (eh. 30)
• Eating di~orJers c:
19 years (the end of the 19th year), which is consistent
• Substance use and nl isuse, indlld ing smoki ng
• Injuries and violence, including accidents, self-
:D
with the World Ilealth Organization's definition of harm, abuse etc. (Chs 37 and 50).
adolescence.
Note that adolescence contains biological, psycho-
logical and social elements (FiR 19.1). Sex and sexually transmitted
TIle key health problems of <ldolescencc include the
follo\\'ing, which are nOt all considered in detail in this infections
chapter, but elsewhere in these books:
• Growth and puberty (Chs 22 and 25)
Teenagers and sex: some facts
• Nutrition, exercise and obesity (Chs 4 and 22) • Average age of firsl sex is 16 (boys and girls).
• Sexual and reproductive health • 30% of boys and 26% of girls have sex before 16. 203
N~el Kennedy
25 Abdominal disorders
Introduction 304
Constipation 304
Soiling and encopresis 306
Recurrent abdominal pain 307
Acute abdominal pain 309
Vomiting in children 312
Acute diarrhoea 314
Blood in the stool 317
Scrotal swelling 318
Food allergy 319
Iron deficiency anaemia 319
Bruising 320
Neonatal jaundice 320
Lumps in the neck 322

Know how to diagnose the common and important conditions responsible for
symptoms and signs in young children
Know the causes of these conditions and details of the important conditions
Know the appropriate management at primary care level
-
"II
<
Know when to refer for further hospital investigation
Know how to take a full clinical history and examine the child to formulate a
management plan.
m
Introduction Constipation
SymplOms rel,lIed to the child's abdominal system Problem-orientated topic:
present commol1ly to doctors ill primM)' car~, ,"'lany
of lhese Ji~order~ are self-limiting and require no a constipated child
lrt'atmenl, but less frequently, serious disease may
Mat.thew is a 3-year-old who 15 brought
be presenl and urgel1t referral 10 hospital is required,
'nlis chapter di~nl~t:s ,Ill appro<lch 10 these common
to see you, his GP, because hie; mother 19
304 synllHOJIIS
Valerie A. Harpin Susan M. Gentle CHAPTER
Neurodevelopmental 29
disability
Introduction 27
Learning disability 27
Developmental coordination disorder 33
The cerebral palsies 36
Communication and its disorders 40
Autistic spectrum disorders 44
LEARNING OUTCOMES
● Understand the causes of learning disability, attention deficit/hyperactivity disorder
(ADHD), cerebral palsy and communication disorders
● Understand the principles of management of learning disability, ADHD, cerebral palsy
and the different types of language impairment and communication disorder
● Understand the concept of the autistic spectrum and what it includes.
MODULE S IX
You should also take the opportunity to ensure that:
● You can make an initial assessment of a child with learning difficulties, ADHD, delayed
walking and cerebral palsy, and delayed language development
● You are aware of the different ways of assessing of language impairment and
communication disorder
● You are aware of appropriate management.
Introduction Learning disability

The prevalence of physical and multiple disabilities in
Problem-orientated topic:
children is estimated to be approximately 10–20 per
1000. Chapter 18 describes the concepts and causes of the slow learning child ●●●●●
disability, and emphasizes that its management requires
a multidisciplinary approach, often focused on a Child Thomas is a 3-year-old boy who is referred
Development Centre. This chapter concentrates on the because of suspected developmental delay.
causes, investigation and management of common His vision and hearing are normal. There
specific neurodisabilities of childhood. Although each is no family history of learning disability,
disability is considered separately, multiple disabilities fits or serious illness. His parents are not
in the same child are common. Continued overleaf
27
V0229-F01906.indd 27 2/13/07 5:38:36 PM

related. Thomas was born at term weighing BOX 29.1 Definitions in learning disability
3.5 kg, following a normal pregnancy. He had
In the UK, the term ‘learning disability’ is currently
no neonatal problems. There is no relevant used in preference to ‘mental subnormality’ or
29 past medical history and no evidence of fits. ‘mental retardation’, whereas in the USA the
He smiled at 8 weeks, sat by 8 months and term ‘learning disability’ means ‘specific learning
walked at 15 months. He has had no feeding disability’ and ‘mental retardation’ is still the term
Neurodevelopmental disability
difficulties. His early social interaction was used to denote ‘general learning difficulties’.
normal. On examination he is not dysmorphic.
His head circumference is on the 70% centile. Table 29.1 UK definitions and incidence
He has no neurocutaneous lesions; his gait, Definition IQ Incidence Cause

(per 1000) identified*
fundi and deep-tendon reflexes are normal,
Mild/moderate 50–70 5 68%
and his plantar reflexes are down-going. Arm
Severe < 50 3.8 96%
and leg tone is normal and symmetrical. He
shows good eye contact, early turn-taking Severe 9.3
(developing
and uses his index finger to point for a drink countries)
or food. The only word he uses is ‘Mum’, with * This is higher, however, than in routine clinical practice (Whiting K
some other early babble. 2001 Investigating the child with learning difficulty. Current Paediatrics
11:240–247).
Q1. What is the definition of learning disability?

Q2. How do you make the diagnosis of learning We will use the abbreviations ‘SLD’ for severe learning
disability? disability and ‘MLD’ for mild/moderate learning
disability.
Q3. What are the pros and cons of investigating a
child with a learning disability?
Some psychometric tests
Q4. What investigations would you perform, if any?
The following two tests are commonly used by paedia-
Q5. How would you manage this child and family? tricians. Both require training and special equipment:
• Griffiths. This has been standardized on 0–8-year-old
British children but relies on parental reporting; many
items are timed. It has recently been updated.
Q1. What is the definition of learning • Bayley II. This scale (age range 0–42 months) is
used to assess developmental age and has been
disability?
standardized on American children.
A child or young person has a learning disability if
he or she has ‘a greater difficulty in learning than the
majority of children of the same age’ (Box 29.1). Q2. How do you make the diagnosis of
The International Statistical Classification of Diseases– learning disability? (Box 29.2)
10th revision (ICD-10) defines it as ‘a condition of arrested Mild/moderate learning disability
or incomplete development of the mind which is especially While children with SLD often have associated problems
characterized by impairment of skills manifested during such as cerebral palsy, those with MLD often have no
the developmental period contributing to the overall other problems. Many will be the tail-end of the normal
level of intelligence, i.e. cognitive, motor and social distribution; others will have learning difficulties as
abilities’. This is not a helpful definition for parents. a result of environmental factors (lack of early oppor-
For research and study it is sometimes necessary to have tunities or iron deficiency) and be functioning below
a definition that can be measured. Average intelligence their genetic potential; some will have an identifiable
quotient (IQ) is 100, with a standard deviation (SD) of remediable cause such as vision or hearing problems;
15. Learning disability may then be defined as > 2 SD some will have an intrinsic problem such as neuro-
below the mean or the ICD-10 definitions: fibromatosis or a chromosome abnormality.
• Mild IQ 50–69
• Moderate IQ 35–49
BOX 29.2 A point to remember
• Severe IQ 20–34
• Profound IQ < 20. History and examination are the main ways in which
a diagnosis is made. Investigations are most useful
In practice, people in the UK often use the defini- in confirming or clarifying a diagnosis.
28 tions shown in Table 29.1.
V0229-F01906.indd 28 2/13/07 5:38:36 PM

All children with significant learning difficulties mon or easily recognized syndromes, such as Down’s,
should have at least some paediatric assessment to Edwards’ and Sturge–Weber; and others with a number
contribute to identification of special educational of abnormal features not immediately recognizable
needs. as a syndrome but in whom it is possible to make a
When seeing a child referred from school with MLD diagnosis.
enquire about:
• History
• Birth http://www.ncbi.nlm.nih.gov/Omim/
• Progress from birth OMIM (Online Mendelian Inheritance in Man)
• Family dysmorphology database
• Other concerns
• Hearing and vision Developmental regression
• Behaviour If there is progressive loss of skills (Ch. 28) it is
• Poor general health important to consider:
• Time off school, leading to under-achievement • Hydrocephalus
• Whether children are working at their best in • Poorly controlled epilepsy
school • Metabolic disorder/neurodegenerative disorder
• Epilepsy (absences, minor status). • Rett’s disease
Look for dysmorphism or other clues to aetiology. • Infection, particularly in an immunocompromised
host (e.g. AIDS)
• Vascular problem, e.g. repeated minor strokes from
Severe learning disability
moyamoya or sickle cell disease; malformations
It is important to ask or examine for:
causing vascular ‘steal’.
• Genetic abnormalities:
– Dysmorphism True regression can be hard to ascertain because
– Malformations development is taking place at the same time. All child-
• Metabolic defects: ren, and particularly those with a learning disability, will
– Failure to thrive sometimes learn something new and then appear to
– Hypotonia forget it for a while.
– Consanguinity
– Recurrent unexplained illness (especially
MODULE S IX
Reasons to ask for further assessment
anorexia and vomiting) • To obtain an objective assessment of abilities
– Loss of skills • To identify strengths and weaknesses that may help
– Coarse facies with management
– Ocular abnormalities • To assess progress
– Macro- or microcephaly • For the court, such as in cases of neglect
– Family history of unexplained illness or death • For research.
• Brain malformation:
– Abnormal skull
– Focal deficit Q3. What are the pros and cons of
– Loss of skills investigating a child with a learning
– Micro- or macrocephaly
disability?
– Seizures
– Visual abnormality. Pros
• Treatable cause, e.g. hypothyroidism
Syndromes • Genetic counselling may be useful
These are more likely in children with SLD but should • For prognosis
be considered in all children with learning difficulties. • The parents may be helped by knowing the
In children with SLD, about one-quarter have a chromo- cause.
somal disorder; 80–90% of these have Down’s syndrome.
The next most common disorder is fragile X syndrome Cons
(p. 32). • False positives and false negatives
There are now over 2000 syndromes and the number • Pain and complications of investigations
continues to increase. From a practical day-to-day (especially anaesthesia)
perspective they fall into two broad groups: the more com- • Financial cost. 29
V0229-F01906.indd 29 2/13/07 5:38:36 PM

BOX 29.3 Pitfalls in screening for metabolic Down’s syndrome (Tables 29.2 and 29.3)
disorders
Incidence is approximately 1 in 1000 live births. The
Beware of thinking you can ‘screen for metabolic risk of having a child with Down’s syndrome increases
29 disorders’ and exclude them. ‘Screens’ look for only with maternal age, so that for a mother in her twenties
a small number of things. Be prepared to investigate the risk is less than 1 in 1000, but greater than 1 in 100
again if things change. See also Chapter 15.
in mothers over 40. However, most babies are born to

mothers in their twenties and thirties.
Almost everyone can recognize a child or adult
Q4. What investigations would you with Down’s syndrome. One of the problems with a
perform, if any? (Box 29.3) well-recognized syndrome is that people can have
preconceived ideas about what a child with Down’s
Investigations should be performed on the basis of
syndrome is like. Children with Down’s syndrome can
clues from the history and examination. The following
be as different from each other as any other group of
investigations may be indicated, particularly in children
children in the population. Some children are able to
with SLD:
follow a mainstream curriculum and achieve GCSE
• Chromosome analysis
passes. Others may never develop language. Some have
• Brain imaging
very limited exercise tolerance, while others achieve
• Metabolic investigations.
sporting excellence.
Q5. How would you manage this child and Genetic types (see also Ch. 9)
family? Most are caused by non-disjunction in meiosis, resulting
in an additional chromosome 21 (47 XY with additional
The neurodevelopmental paediatrician’s role is: chromosome 21). In 20–25% the extra chromosome is
• Establishing whether there is a learning disability paternal. When Down’s syndrome is caused by trisomy
(usually done with a multidisciplinary team). In 21, the recurrence risk is about double that of a woman
younger children it is the health services that are of the same age without a previous history.
primarily involved in this. In older children it is Three to four percent result from translocation of
primarily school-based. material from chromosome 21 on to another chromo-
• Identifying the cause. This may be from the history some. A parent may often have a balanced translocation
and examination or may include investigation. (one of their chromosome 21s is attached to another
• Referral to other professionals as appropriate. These chromosome), but this causes no problem because they
may include: have a normal total amount of chromosome material.
– Speech and language therapy (SLT), However, this tagged-on chromosome may be present
occupational therapy (OT), physiotherapy in a gamete in addition to a normal chromosome
– Psychology 21, giving rise to extra chromosome material in the
– Other medical specialties offspring. There is a greatly increased risk of a couple
– Education having a second affected child.
– Social services. Mosaicism accounts for 2–6% and such individuals
• Looking for and managing associated difficulties. There are usually affected to a lesser degree.
may be problems with hearing, vision, motor
function, behaviour or epilepsy. Some are specific,
Diagnosis
e.g. hypothyroidism in Down’s syndrome.
If the diagnosis is not made on antenatal screening,
• Counselling parents. The neurodevelopmental
it is usually made early in the neonatal period by
paediatrician may be the initial person to do this,
recognition of the typical features of Down’s syndrome.
although others may take up the role later.
It may be a midwife, a paediatrician or the parents who
• Liaison with education.
first recognize that there is a problem with the baby.
• Explanation to child and parents of the likely effects of
There is strong evidence from parents to suggest that
the disabilities.
disclosure should be made as soon as the diagnosis is
• Responding to concerns.
suspected, preferably with both parents present. The
In metabolic disorders some pharmacological treat- diagnosis is confirmed by chromosome analysis.
ments may have an effect on progress. This is a very
specialized area and one that is constantly changing, Management
but it is a good reason for trying to make a specific Down’s syndrome has possible effects on all body
30 diagnosis. systems. Management of children therefore needs
V0229-F01906.indd 30 2/13/07 5:38:37 PM

Table 29.2 Down’s syndrome
Feature Comments
Facial features
Prominent epicanthic folds
Flat nasal bridge
Small nose
Protrusion of tongue This is not a large tongue but poor tone
Brachycephaly
Wide hands, short fingers
Distal tri-radius, clinodactyly
Single palmar crease Simian crease may be present in normal individuals
Wide gap between first and second toes
Brushfield spots Spots on iris
Fine soft hair Can have alopecia
Dry, hyperkeratotic skin Helped by simple emulsifying cream and appropriate bath oil
Other skin problems Such as vitiligo, papular erythema, mottled skin (cutis marmorata)
Hypotonia Prominent in the neonatal period. Influences motor development. May result in joint
dislocation
Orthopaedic problems Atlanto-axial instability (see below)
Hip dysplasia/dislocation
Dislocation/displacement of other joints
Cardiac problems See below
Bowel problems Duodenal atresia presents neonatally
Also look out for constipation (Hirschsprung’s disease, hypothyroidism) and malabsorption
Infections More prone to infections, e.g. bacterial pneumonia, otitis media
Hypothyroidism Higher incidence of autoimmune hypothyroidism; important to screen for this
Leukaemia About a 10–20-fold increase. Children may cope badly with intensive treatment
Low fertility Females are fertile
Males often have undescended testes and hypogonadism
Behaviour difficulties Management should be appropriate to developmental age
MODULE S IX
Poor growth and weight problems Frequently poor feeders in infancy. Later a tendency to become overweight and attention to
diet and activity levels is needed
N.B. Use growth charts for children with Down’s syndrome
Presenile dementia Important for long-term support, as carers may be elderly with an affected young adult
Table 29.3 Average milestones for children with Down’s Atrioventricular (AV) canal defects (endocardial
syndrome cushion defects) occur very specifically in children
Milestone Mean age Range with Down’s syndrome (p. 215). Any newborn
Sitting 13 months 6–30 months found to have an AV canal defect should have
Standing 22 months 9–48 months chromosomal analysis.
Walking 30 months 12–60 months Patent ductus arteriosus (PDA), ventricular septal
defect (VSD) and atrial septal defect (ASD) are also
Single words 34 months 12–72 months
more common in children with Down’s syndrome.
40% of children with Down’s syndrome are able to learn to read
Damage to pulmonary vasculature with
irreversible pulmonary hypertension can occur
a multidisciplinary approach. Of the many other much earlier in children with Down’s syndrome
potential problems in a child with Down’s syndrome, than expected from the size of the shunt alone.
there are two that deserve particular mention: PDA, ASD, VSD and AV canal defects should be
• Congenital heart disease. This occurs in 40–50% considered for early surgical intervention.
of babies with Down’s syndrome. All newborn • Atlanto-axial instability. Routine cervical spine X-
babies should be evaluated, with observation ray used to be recommended but review of X-rays
(of feeding etc.), physical examination, of the same child taken minutes apart could give
electrocardiogram (ECG), chest X-ray (CXR) and rise to completely different advice. Spinal cord
echocardiogram. damage in Down’s syndrome is rare and usually 31
V0229-F01906.indd 31 2/13/07 5:38:37 PM

insidious rather than acute. It is important not to Features are very variable and some are only evident
frighten parents and cause children to be wrapped in adolescent or adult life. Clinical diagnosis in a
in cotton wool and prevented from joining in young child is difficult.
appropriate activities; however, parents do need Families need careful genetic advice.
29
relevant information to enable them to recognize Other sex chromosome abnormalities in which
symptoms that should be reported. The three most learning disability may occur are discussed in
common symptoms are: Chapter 9.

– Deterioration/change in gait or manipulation
skills
– Neck pain/stiffness Neurocutaneous syndromes
– Difficulties with sphincter control.
These may also cause learning disability (pp. 8–10).
Children with any of these should be investigated
urgently.
Advice should be given to other regular carers Rett’s syndrome
of children with Down’s syndrome and included
in medical advice for assessment of special This presents as a neurodegenerative disorder but
educational needs. is probably a neurodevelopmental disorder. It is
sometimes classified with the pervasive development
http://www.dsmig.org.uk disorders such as autism. Genetic advances in Rett’s
Guidelines on surveillance for people with Down’s have been rapid in recent years. Milder cases and cases
syndrome in boys are being described. It constitutes about 10%
of SLD in girls.
Fragile X syndrome
This is probably the second most common known Specific learning difficulties
syndromic cause of global learning disability (about
1 in 1360 males and 1 in 2000 females; a further 1 in The Education Code of Practice defines children as
1000 females are asymptomatic carriers). The degree having specific learning difficulties when they have
varies from mild to severe in boys, and mild to moderate ‘significantly’ more difficulty in a specific area than
in girls. The defect in fragile X is now known to be an most children of the same age that is not due to general
expansion in a specific DNA triplet repeat (CGG) on learning disabilities.
the X chromosome. ICD and DSM (Diagnostic and Statistical Manual of
Physical features include: Mental Disorders) definitions depend on the child having
• Long face and slightly increased head a normal IQ and no other problems, but there is no
circumference reason why a child with generalized learning difficulties
• Macrognathia cannot have specific difficulties in one particular area,
• Large protuberant ears over and above their general level of difficulty.
• Flattened nasal bridge
• Abnormal dermatoglyphics
Specific reading disorder
• Macro-orchidism
• Infantile hypotonia The term ‘dyslexia’ is used, but very loosely, for a wide
• Connective tissue dysplasia (joint laxity and soft variety of difficulties at school.
velvety skin)
• Aortic dilatation and mitral valve prolapse
• Recurrent otitis media Writing disorder
• Failure to thrive in infancy There is a lot of overlap between reading and writing
• Tonic–clonic or partial epilepsy, temporal spikes problems (dysgraphia).
on electroencephalogram (EEG)
• MRI scan abnormalities (especially cerebellum).
Mathematics disorder (dyscalculia)
Psychological features include:
• Variable intellectual impairment Incidence is probably similar to dyslexia and dysgraphia
• Language delay but there are interesting differences:
• Social impairments, such as those seen in • Dyscalculia is seen equally in boys and girls
autism (though recent work suggests that dyslexia may
32 • Attention and concentration difficulties. also be equally represented).
V0229-F01906.indd 32 2/13/07 5:38:37 PM

• It is seen more in fragile X carriers, Turner’s Secondary problems include:
syndrome, phenylketonuria (PKU) • Behaviour problems
and ADHD. • Poor self-esteem
• It is the most common learning difficulty in • School failure.
epilepsy.
When a child first presents at the clinic, a general
paediatric and neurological assessment is needed, parti-
cularly to exclude other causes. There are no specific signs
Developmental coordination on neurological examination. Assessments specifically for
disorder (DCD) DCD are best carried out by an occupational therapist,
but the paediatrician should perform some initial
Currently, this is the term used most commonly for screening.
children with motor coordination problems. A number of
conditions can present with clumsiness other than DCD Management
and these need to be excluded because management is The mainstay of treatment is occupational therapy and
different. Evidence of deterioration should be sought physiotherapy. Management can be considered under
at presentation and at reviews. the following headings:
• Explanation to child, parent and teacher
• Specific advice to parents and teachers to help in
Differential diagnosis
specific areas such as handwriting and dressing
• Muscular dystrophies
• Improving self-esteem
• Cerebral palsies
• Specific therapy.
• Brain tumours
• Brain injury
• Hydrocephalus Problem-orientated topic:
• Ataxias, such as Friedreich’s ataxia (p. 14)
• Metabolic disorders disruptive behaviour (ADHD) ●●●●
• Polyneuropathies Connor is 7 years old. His mother, a single
• Seizure disorder (p. 5)
parent to Connor and his 4-year-old sister,
• Vestibular disease
has always struggled with his behaviour.
• Tremors and other involuntary movements.
Now things are going very badly at school.
MODULE S IX
History, examination and, if appropriate, investigation Connor has barely started to acquire literacy
should exclude these diagnoses. skills, although he seems a bright child. His
disruptive behaviour in class is now such a
Presentation problem that he is frequently sent home. His
This is variable and depends on the age of the child, class teacher has advised his mother to seek
though most patients do not present until school age. a medical appointment. He was initially slow
There is a mixture of gross and fine motor problems. to acquire language but other milestones
Gross motor problems include:
were normal. Last week he set fire to his
• Awkward gait, ungainly running
bedroom carpet.
• Falling a lot
• Bumping into things
• Poor balance
Q1. What is attention deficit/hyperactivity disorder?
• Poor balancing on one leg, inability to hop Q2. How would you assess Connor for this
• Slow (or failure of) learning to ride a bike condition?
• Difficulty learning to swim Q3. How should you manage Connor and his
• Poor at catching, throwing, batting a ball. family?
Fine motor problems include: Q4. What is Connor’s prognosis?

• Difficulty dressing (clothes on the wrong way
round or in the wrong order, difficulty with
buttons and zips)
Q1. What is attention deficit/hyperactivity
• Feeding messy; difficulty using a knife and fork
disorder?
• Poor at building with bricks, jigsaws, drawing
• Poor pencil control for writing This is not a new disorder explained by environmental
• Difficulty using scissors and rulers. pollutants or ‘made up’ to explain away naughty 33
V0229-F01906.indd 33 2/13/07 5:38:37 PM

children. Frederick Still described children in 1902 be over-estimated because boys show more obvious
with a ‘defect in moral control’, which almost certainly aggressive behaviour and girls have more inattention.
was ADHD.
29 Individuals with ADHD have: The underlying problem
• Inattention This appears to be an executive function deficit.
• Hyperactivity Executive functions include:
• Impulsivity: excessive in the context of age, sex and • Self-regulation

cognitive ability. • Sequencing of behaviour
• Flexibility in response
For a diagnosis to be made these symptoms should
• Response inhibition
be:
• Planning
• Present in more than one situation
• Organization.
• Present before the age of 6/7 years
• Impairing the child’s educational or social
Pathology
functioning.
Development of the frontal lobes is relatively late
and myelination is not complete until adolescence.
Inattention
Neuroimaging studies have been inconsistent but the
There is poor regulation of attention and this is
frontal cortex and its connections, as well as intracerebral
manifest particularly in difficult, imposed tasks that
connections via the corpus callosum, have abnormal
are not immediately rewarding. A child may attend to
activity. There may be differences in brain volume and
a video game or watch a TV programme with sustained
size of the cerebellum. Functional magnetic resonance
attention but be unable to concentrate in school.
imaging (MRI) shows diffuse and decreased activity
when individuals with ADHD undertake tasks requiring
Hyperactivity
concentration. There is abnormal handling of nor-
This is manifest differently at different ages:
adrenaline (norepinephrine) and dopamine in the
• The preschool child will rush around, jumping and
brain. This theory is supported by response to treatment
climbing noisily and being unable to settle in play.
with drugs affecting these neurotransmitters.
• The school-age child may be fidgety, squirming
and having difficulty remaining seated.
Aetiology
• The adolescent is restless, with foot-tapping and
• Genetics. Genetics is the major factor governing
twiddling, and is unable to sit quietly.
whether or not a child has ADHD. It has been
estimated that there is between 54% and 98%
Impulsivity
heritability.
Impulsivity means not thinking before acting; it often
• Environment. This also plays a part, particularly
results in getting into trouble for being cheeky or
maternal depression and social disadvantage. It
reckless. The child may have frequent accidents.
is likely that there is an interplay of genetics and
environment, with environmental factors maintaining
Secondary problems
or exacerbating ADHD rather than causing it.
Most children have secondary problems, including:
• Central nervous system damage. ADHD is also more
• Poor self-esteem
frequent following:
• Poor peer relationships
– Perinatal problems and prematurity
• Poor relationship with parents
– Antenatal insults, such as fetal alcohol
• Sleep/wake problems
syndrome or maternal smoking
• Dietary problems (will not settle to eat).
– Head injury, especially frontal lobe damage
– Encephalitis and meningitis
Epidemiology (Table 29.4)
– Hypoxic episodes, such as drowning and
ADHD is almost certainly still under-diagnosed in
strangling
parts of the UK, depending on where the child lives.
– Cerebrovascular accidents
All studies show a predominance of boys, but this may
– Chronic neurological illness, such as epilepsy,
Table 29.4 Epidemiology of ADHD
metabolic problems (e.g. PKU)
Population Incidence
– Medical treatments, such as cerebral irradiation,
anticonvulsants
UK (inner city) 1.5% of 7-year-olds
– Certain conditions such as Williams’ syndrome,
UK (general) 0.5–1% (hyperkinetic) hypothyroidism, tuberous sclerosis, XYY, XXY
3–7% ADHD
34 and fragile X syndrome.
V0229-F01906.indd 34 2/13/07 5:38:38 PM

Q2. How would you assess Connor for this • Unrealistic expectations on the part of parents or
condition? teachers
• Poor parenting
Diagnosis is made by assessing information from a • Bullying
variety of sources. This is time-consuming and more • Bored bright child
than one clinic visit is usually needed. • Learning difficulties
• Sleep problems
History • Conduct disorder.
• Current concerns, with specific examples, onset of
problems and situation
• Antenatal and perinatal history for possible risk Investigations
factors These are rarely indicated but you may need to exclude
• Early development: babies may be hyperactive with other causes of hyperactivity or inattention, such as
sleep problems, feeding difficulties, colic, waking hearing loss, epilepsy, thyroid disorders, side-effects of
early drugs:
• Medical problems for risk factors and differential • Test chromosomes if the child is unusually tall
diagnosis (XYY) or has learning difficulties (fragile X) or
• Educational problems for difficulties in different dysmorphism.
environments • Order an EEG if there is suspicion of subclinical
• Relationships with parents and peers epilepsy or absence epilepsy (poor concentration
• Family history rarely is absence epilepsy).
• Social situation, looking for other causes of
difficulties Comorbidities
• Possible comorbidities (see below). Comorbidity appears to be the rule rather than the
exception in ADHD. The common additional problems
Examination are:
• Physical and neurological examination for • Reduced cognitive ability (IQ on average is
associated problems (e.g. clumsiness), other 5–15 points lower)
problems (e.g. hearing, vision) and other diagnoses • Specific learning difficulties (particularly in
putting the child at risk (e.g. dysmorphism, reading)
tuberous sclerosis) • Delayed language development and poor language
MODULE S IX
• Mental state looking for poor self-esteem, skills
depression, anxiety • Developmental coordination difficulties (DCD)
• Developmental assessment: behaviour • Oppositional/defiant disorder and conduct
inappropriate for developmental age. disorder (ODD/CD)
• Mood disorders (anxiety, depression)
Observation in different settings is vital:
• Obsessive–compulsive disorders (OCD)
• During the initial assessment
• Tourette’s syndrome
• In school/playground/nursery/playgroup
• Autistic spectrum disorders.
• At home (parental report may be adequate).
It is important to identify these to optimize treatment.
Structured questionnaires, e.g. Conner’s Scales, play
an important role in the screening and diagnosis of
ADHD.
Psychometric testing is helpful in identifying those
Q3. How should you manage Connor and
children whose primary problem is a learning difficulty
his family?
and comorbid specific learning difficulties. Information is an important aspect of management.
Making the diagnosis and making this known to all
Differential diagnosis involved may, in itself, help the child, parent and teachers
• Physical illness to cope with the ADHD:
• Drugs (either prescribed or of abuse) • Oral and written information should be made
• Attachment difficulties available.
• Social issues (e.g. family break-up) • The child should be informed as well as the
• Child abuse (especially if change in behaviour) parents.
• Depression/anxiety • Teachers should be informed about the diagnosis
• Hearing problems and, if necessary, about what it means. 35
V0229-F01906.indd 35 2/13/07 5:38:38 PM

Support groups • Rebound behaviour difficulties
These can be very helpful to parents and child. • Tics, although it is not certain that these are a true
side-effect or constitute a coexistent tic disorder
29 • Marrow aplasia (very rare).
Educational measures
Simple suggestions can be very helpful such as: Atomoxetine is a non-stimulant selective noradre-
• Having the child sit near the teacher nergic reuptake inhibitor, which was licensed for use in
• Removing distractions where possible ADHD in the UK in 2004. Research suggests that it has
• Clear, frequent and small rewards and discipline a significant effect in around 70% of individuals with
• Working alone or in small groups ADHD. It is used as a once- or twice-daily medication
• Addressing any learning difficulties. (and therefore does not need to be given in school).
Side-effects may include somnolence, gastrointestinal
effects and rarely liver problems.
Behaviour modification
Positive reinforcement is very important. Children with http://www.nice.org.uk//page.
ADHD often have low self-esteem. Children respond aspx?o=TA098guidance
best to a well-structured, predictable environment where
expectations and rules are clear and consistent, and Diet
consequences are set down ahead of time and delivered Diet has long been suggested as an important cause
immediately. of behaviour problems. Additives in the diet worsen
hyperactivity but do not cause ADHD. It is worth
checking whether the parents have noticed any foods
Medication that cause deterioration in behaviour and removing
Medication is the single most effective approach in them from the diet.
severe ADHD.
Stimulant medications (methylphenidate, dexamphe- Sleep
tamine) affect the dopamine pathways in the brain but Many children and young people with ADHD have
the exact mechanism of action is unclear. They may poor sleep patterns and cannot usually stop themselves
stimulate areas of the brain that are not functioning waking others when they are awake. It is seldom safe
properly. They do not affect the underlying pathology but to leave such a child unattended for long and families
control some symptoms, so that behavioural management are often very sleep-deprived. This may greatly limit
can be more effective, school work can progress and their capacity to cope with their constantly active
social relationships can develop better. They work best offspring in the daytime! Although stimulants may
in controlling hyperactivity and impulsivity but are less cause insomnia in some children, a teatime dose may
effective in controlling inattention. Methylphenidate, the actually help a child to get off to sleep by calming a
most frequently used medication, is usually started at a racing mind. In other children, the use of melatonin
dose of 2.5–5 mg twice or three times a day, increasing to regulate sleep patterns and quality is very useful.
by 2.5–5 mg weekly until the desired effect is achieved.
A maximum of 20 mg per dose, or 45–60 mg per day,
4. What is Connor’s prognosis?
should be used. If there is no effect after 3 weeks at
Some children continue to have difficulties in adult
maximum dose, it should be stopped.
life. Various groups have reported similar findings,
Sustained-release products are now available. These
with approximately 30% within the normal range as
have a lower incidence of side-effects and, as they are
adults, 50–60% continuing to have problems with
long-acting, do not need to be given in school.
concentration, impulsivity and social interaction, and
Between 60 and 80% of children are helped by
10–15% having significant psychiatric or antisocial
stimulant medication. Side-effects occur but are not
problems (depressed, suicidal, drug and alcohol abuse,
usually severe and include:
convictions for assault, armed robbery etc.).
• Stomach ache and headache
The prognosis is best for those children with ‘pure’
• Decreased appetite
ADHD and worse for those with severe symptoms, comor-
• Sleep disturbance
bidities, and poor family and educational support.
• Cardiovascular effects (blood pressure should
be checked before starting treatment and at
follow-up)
• Unhappiness/withdrawal
The cerebral palsies
• Growth suppression (0.5–1.0 cm if treatment is Cerebral palsy (CP) is defined by the Oxford Register
36 continued throughout puberty) of Early Childhood Impairments as:
V0229-F01906.indd 36 2/13/07 5:38:38 PM

BOX 29.4 Exercise: terminology in cerebral palsy BOX 29.5 Feedback on terminology
Have a go at defining these commonly used terms: • Tone is the resistance of a muscle to passive
• Tone stretch (hypertonia — increased resistance,
hypotonia — reduced resistance)
• Spasticity
• Ataxia • Spasticity is a velocity-dependent increase in
resistance to passive stretch. Spastic muscles
• Athetosis are not necessarily hypertonic. The key is the
• Chorea velocity dependency; spasticity is an abnormal
• Dystonia response to rapid stretch. Usual associated
features are clonus, increased deep tendon
reflexes and extensor plantar responses
A permanent impairment of voluntary movement or posture • Ataxia is an abnormality in the smooth approach
presumed to be due to permanent damage to the immature to an object, with wide-amplitude corrections
brain. Children with progressive disorders and those with during the movement. In relation to gait, ataxic
profound hypotonia and no other neurological signs (often means broad-based, poorly coordinated
associated with severe intellectual delay) are excluded. It
• Athetosis is the characteristic of slow writhing
is an umbrella term which includes a heterogeneous group movement, usually seen in the distal part of the
of conditions and can arise at any point during brain limb during voluntary activity
development.
• Chorea is rapid, high-amplitude, sudden
There are three main types: involuntary movement
• Spastic CP, which can be divided into diplegia, • Dystonia is abnormal tone, either high or low. It
hemiplegia and quadriplegia depending on areas usually refers to abnormal sustained contractions
affected of agonists and antagonists resulting in an
• Ataxic CP unusual and abnormal posture, e.g. inversion of
• Dyskinetic CP. foot, retraction of shoulders etc.
Terminology
See Boxes 29.4 and 29.5. severe learning difficulties, may occur as a result
of brain injury in late third trimester. Prolonged
Classification partial asphyxia in a term infant may be the cause
MODULE S IX
CP refers to a group of disorders. Classification is (p. 365). Acute profound asphyxia may develop in
based upon clinical descriptions of neurological signs. the third trimester as a consequence of antepartum
It is commonplace to find mixed patterns with one haemorrhage, cord prolapse or uterine rupture
predominant aspect, e.g. hemiplegia with some involve- and may lead to damage in the basal ganglia and
ment of the good side, diplegia with asymmetry in the thalami which may be confirmed on MR scanning.
upper limbs etc.: The clinical correlate is the later development
• 27 Spastic diplegia. Recent magnetic resonance of dyskinetic cerebral palsy, often with relatively
55 studies show that the underlying lesion preserved cognitive function. The contribution of
63
in most cases of spastic diplegia is perinatal asphyxia to the overall prevalence of CP
periventricular leucomalacia (p. 367). is debatable, but most agree an estimate of about
• 54 Spastic hemiplegia. Spastic hemiplegia 10% of all cases.
constitutes about 25% of all cases of CP. Dyskinetic CP may also arise due to bilirubin
The cause is usually an infarction within the encephalopathy in the neonatal period. These cases
distribution of the middle cerebral artery (p. 367). were more common in the past, but prevention
• 12 Total body involvement CP. In these cases the and improved management of rhesus iso-
64 brain pathology most commonly originates immunization have resulted in a dramatic fall in
in the prenatal period and may be due to the number of cases.
a variety of abnormalities such as primary Ataxic CP (about 5% of CP) is mainly of prenatal
cerebral dysgenesis (lissencephaly/pachygyria), origin. There may be strong familial patterns, with
early pregnancy infections (e.g. cytomegalovirus autosomal dominant, X-linked and autosomal
(CMV), toxoplasmosis), or vascular malformations recessive modes of inheritance. Sporadic cases
and vascular accidents (e.g. hydranencephaly). are also seen. Children show ataxia, intention
Spastic tetraplegia with bilateral cerebral tremor and dyskinesia, usually before 2 years of
hemisphere infarction, sometimes with extensive age. Some may achieve independent walking by
cyst formation (multicystic encephalomalacia) and 4–6 years, although in these cases handwriting 37
V0229-F01906.indd 37 2/13/07 5:38:38 PM

remains problematic and, in more severe cases,
learning difficulties and seizures may complicate
the presentation. About 30% show normal or
borderline intellectual function. A magnetic
29
resonance study of ataxic CP showed that over 50%
were unclassifiable, 23% were genetic, and only 4%
(3 cases) may have had a perinatal cause.
Epidemiology Spasticity Fixed musculo- Fixed contracture

Prevalence of the cerebral palsies is about 1.7–3 cases/1000 Dynamic contracture tendinous and bony deformity
contracture
live births. There may have been a trend of increase in Treatment
the overall prevalence of CP in children born in the
Physiotherapy Surgical Surgical lengthening
1970s and 1980s. The main area of increase has been Orthotics lengthening correction of torsion,
in the most immature babies weighing under 1 kg. Botulinum toxin arthrodesis
The reasons for this increase are unclear but probably
relate to dramatic changes in survival of very immature Fig. 29.1 Spasticity: management
infants.
Another important aspect of epidemiology is sur- – Infection (e.g. meningitis)
vival. Most children with CP now survive to adult life, – Toxins (e.g. hyperbilirubinaemia)
even when disease is severe. This is having an impact on – Perinatal asphyxia
services for adults as well as children. • Postnatal:
– Infection
Problem-orientated topic: – Vascular accidents
– Head injury (accidental or non-accidental)
delay in walking ●●●●● – Encephalopathy
– Anoxic event.
Matthew is 18 months old and his mother is
concerned that he is not yet walking. He is a
bright, sociable child, who has several single
Q2. What are the possible diagnoses?
words. He was born at 27 weeks’ gestation One likely cause for this history is CP and this is
and had a difficult neonatal course. confirmed by abnormal physical signs. A familial delay
should also be considered, as well as rarer causes such
Q1. What questions would you ask to elucidate a as Duchenne muscular dystrophy (p. 17) in boys.
cause? It is important to remember that everything that
looks like CP may not be. Many infants with complex
Q2. What are the possible diagnoses?
congenital abnormalities (dysmorphic syndromes)
Q3. What are the principles of management? will display central motor impairment. These children
will require similar services.
Q3. What are the principles of

Q1. What questions would you ask to management?
elucidate a cause?
This depends upon the stage of the disorder (Fig. 29.1).
An underlying cause may not be apparent, but the Different approaches to treatment have, from time
following should be considered in history-taking: to time, attracted considerable interest and enthusiasm,
• Prenatal: as well as opposition. Only recently have attempts been
– Genetic made to study the relative merits of each in objective
– Infection (e.g. CMV, rubella, chorioamnionitis) ways. No single approach will suit all children with a
– Toxins (e.g. drugs) particular form of CP. In most centres in the UK staff
– Trauma follow an eclectic approach, deriving therapeutic ideas
– Nutritional (‘placental insufficiency’) from a variety of ‘methods’. No study has convincingly
• Perinatal: shown benefits of one approach over another.
– Prematurity (intraventricular haemorrhage/ Management involves regular assessment of the
periventricular haemorrhage/periventricular child (with parent/carer involvement) and close multi-
38 leucomalacia) disciplinary working.
V0229-F01906.indd 38 2/13/07 5:38:39 PM

Key professionals reducing contractures. The duration of effect is
• The physiotherapist is responsible for development usually 10–14 weeks, and measurable effects may
of motor skills, and assessment for lower limb persist for up to 26 weeks.
orthoses and specialized supportive equipment, • Baclofen. This analogue of gamma-aminobutyric
such as standers and mobility aids. In the early acid (GABA) impedes excitatory neurotransmission
stages physiotherapy is aimed at interrupting the at a spinal level. Oral baclofen is rapidly absorbed,
circle of malachievement caused by abnormal but is protein-bound and has poor penetration
muscle tone. The child’s carers are shown methods into CSF because of poor lipid solubility. The half-
of handling and carrying out everyday tasks that life is 3–4 hours, requiring regular dosing (3 times
help this. daily). Response to oral baclofen is unpredictable;
• The speech and language therapist plays these key a number of children will show a satisfactory
roles in CP: response, with reduction in muscle tone, but
– Most importantly, helping with feeding early in others will develop unacceptable side-effects,
life including somnolence, confusion, difficulties
– Helping early communication development with oral control, ataxia and increased frequency
– Help with speech, which may be severely of micturition. Recently, baclofen by continuous
impaired infusion has been given by an intrathecal catheter
– Management of dribbling and pump delivery system to achieve higher
– Provision of communication aids. and continuous CSF baclofen levels. Baclofen is
• The occupational therapist will assess the need for perhaps most useful when there is generalized
equipment to facilitate aspects of daily living, e.g. increase in tone, which would require multiple
bathing, toileting, static seating, feeding etc., and injections of botulinum toxin, e.g. in the child with
fine motor skill function, perceptual skills and the severe spastic tetraplegia.
use of upper limb orthoses. Adaptations may also
be required in the home. Surgery
The orthopaedic surgeon has a major role to play in
management of CP. Orthopaedic surgery may be
Specialized equipment
indicated to improve function, to prevent deterioration,
• Orthoses. The purpose of an orthosis is to restore
to relieve pain and to facilitate care.
the normal distribution of forces acting through
There are two surgical aspects to the management
the limb, thereby normalizing musculoskeletal
MODULE S IX
of CP:
relationships and establishing a normal pattern
• Selective posterior rhizotomy. Two groups of patients
of motion and/or prevention of progressive
are most suitable: children who are of good
deformity. Hence children with a persistently
intelligence, well motivated and sufficiently strong
equinus foot may wear an ankle orthosis. Other
to achieve walking after spasticity is reduced, and
orthoses facilitate hand function. Some children
severely affected, non-ambulant patients in whom
experience upper limb spasticity at night; a night
painful spasm can be reduced.
resting splint will hold the hand in a neutral
• Single event multilevel surgery with associated gait
position in children, thus optimizing functional
analysis. When fixed contracture of muscles
use during the day.
occurs, surgical release has been required to
• Special seating, standing and lying frames. These are
correct the deformity. The traditional approach
used to try to maintain good posture and to give
has been to undertake soft tissue surgery in a
the child optimal positioning and support for
‘phased’ manner, dealing with one area at a time.
feeding and play.
Recently it has become clear that this approach
• Supportive bracing. This may be needed in some
of repeated operations, often on a yearly basis,
quadriplegic patients to prevent progression of
frequently does not improve long-term function.
spinal deformity.
As a result, techniques of thorough pre- and post-
operative assessment have been developed, in
Specific drug treatment particular gait analysis. The latter has led to a better
Drugs are now being used more widely in CP: understanding of normal gait in children and
• Botulinum toxin A (BT A). This works by chemically hence the abnormal gait of the child with
denervating the muscle, allowing it to relax, CP. Detailed surgical planning is based upon
which may enable improved gait or easier care, for objective rather than subjective information. Gait
example. Relaxation of the muscle may also enable analysis also allows proper objective review after
it to grow better by allowing stretching and thereby surgery. 39
V0229-F01906.indd 39 2/13/07 5:38:39 PM

Associated problems Other associated problems include:
Difficulty may arise from motor problems: • Vision problems. These are common (50%),
• Feeding difficulties. Feeding may be a considerable particularly myopia, cortical visual impairment
problem, leading to inadequate quantity and quality and squint.
29
of intake. Children with spastic quadriplegia or • Hearing problems. These occur in 20–30%,
athetoid CP may have such severe feeding difficulties particularly sensorineural deafness. It is also
that they fail to thrive. Recurrent aspiration during important to look for conductive problems.
feeding may lead to serious chest complications, • Learning disabilities. These are found in all types
and children with severe CP commonly suffer of CP. Generalized learning difficulties tend to be
from significant gastro-oesophageal reflux (up related to severity of physical problems; however,
to 70% having oesophagitis). It is important to not all children with severe motor problems have
address positioning and consistency of food, and learning difficulties and children with relatively
to consider the need for gastrostomy feeding. mild motor problems may have significant
A multidisciplinary approach is essential for learning difficulties.
significant feeding problems and many places will • Specific learning difficulties. These are also seen more
have a ‘feeding clinic’. frequently in CP and can easily be overlooked.
• Drooling. This is associated with speech and Assessment can be very difficult if there are severe
feeding problems and can be a significant cosmetic motor problems.
handicap, as well as being very messy and affecting • Epilepsy. Around 21% of children with CP develop
the skin around the mouth and neck. It is usually epilepsy, which may be difficult to control.
due to a problem with swallowing saliva rather than • Psychological problems. These may be due to
excessive production. Techniques used to help it are: physical difficulties, or children may have
– Prompting and rewards for swallowing problems directly related to the underlying
– Positioning and exercises to improve oro- brain disorder.
motor function and sensory awareness, • Educational issues. Most children will go to
now sometimes aided by intra-oral training mainstream school and need a minimum of help.
appliances Some adaptations may be necessary, e.g. ramps,
– Medication with anticholinergics to reduce handrails, lifts, special toilet facilities and adapted
secretions working surfaces in the classroom.
– Surgery to direct the ducts further towards the
back of the mouth
– Occasionally, removal of salivary glands Communication and its
– Intraglandular botulinum toxin injections.
• Dislocated hips. These are an important
disorders
complication in CP and routine screening by X-ray Basic science
is needed. Good postural management will help to
prevent dislocation. When thinking about speech and language development,
• Bowel and bladder problems. Incontinence may you must address the different skills necessary for
result from learning difficulties, but may be a communication. These include the following.
problem of not being able to get to the toilet in
time or undress quickly enough. Constipation is Attention control
common, particularly in the immobile child and The child must have adequate listening skills and
those with restricted diets. It may also be associated attention.
with abnormal gut sensitivity and motility. It is
important to try to prevent problems by Symbolic understanding
explaining to the parents and child about normal Words are symbols, so unless children can understand
bowel function and giving dietary advice. If the concept of symbols, they will not understand speech.
constipation occurs, the earlier it is treated, the
better. Comprehension
• Osteopenia. The increased risk of bone fractures Does the child understand spoken language?
in children with motor disabilities is linked to
reduced bone density. Measures such as weight- Expressive speech
bearing, particularly ambulation, good nutrition This is the area of communication most easily identified
(especially calcium, vitamin D and magnesium) by both parents and professionals, and so tends to be
40 and sunlight will help. what people concentrate on in the early stages.
V0229-F01906.indd 40 2/13/07 5:38:40 PM

Phonology Q3. What investigations would you perform?
The development of sounds proceeds largely in the Q4. How would you manage this child?
same order in all children, the easier sounds being
acquired earlier.
Oromotor skills Q1. How would you assess this child?

These depend on normal orofacial development and
functioning bulbar innervation. History
Ask in particular about:
• Pregnancy and birth history.
Grammar/syntax
• Family history of language problems or learning
The rules of language (e.g. plurals, tenses, word order)
difficulties. There is certainly a strong genetic
need to be acquired.
component in language disorder and possibly in
the normal range of language acquisition.
Semantics • Early input. Carer/child interaction is clearly vital.
Semantics is about the meaning of words. Children • Bilingualism. This was thought to be a problem
can just learn words by rote and not be able to use them for children first learning language but there is no
appropriately in context. evidence for this.
• General development. Language delay is often a
Pragmatics marker for general delay.
Pragmatics is the way in which language is used in the • Any worry about hearing? Has the hearing been
social context. It includes turn-taking, keeping to the checked? Is there intermittent hearing loss or high-
subject, selection, context, verbal jokes and negotiation. frequency loss? Profoundly deaf children will not
This is an area that children with developmental learn spoken language without considerable help.
language difficulties, and in particular autism, find hard Some children with mild hearing losses are delayed
to learn. in their language development.
• Any feeding problems in early life?
• Any problems now with chewing or dribbling?
Non-verbal communication • Any difficulties with social relationships?
A lot of non-verbal communication occurs without
MODULE S IX
thought, but in children with autism it has to be Observation
taught. It includes: • Is there any clumsiness?
• Tone of voice, pauses etc. • Observe the child’s attention span.
• Facial expression, including eye contact • Watch children in a free play situation. Do they
• Body posture make good eye contact with their parent and with
• Gesture and signing other people in the room? Do they turn to share
• Physical contact. enjoyment of a toy with their parent? How does
the parent respond? Is there imaginative play?
These become more important in children with • What spontaneous sounds, words or phrases do
speech problems and may be the predominant form of they use?
communication in some, such as those with profound • Is there good non-verbal communication?
deafness.
Examination
Problem-orientated topic: • Do the ears look normal? Undertake a full ear,
nose and throat examination (Ch. 5).
delay in speaking • Are there local problems in the mouth?
Alex is 21/2 years old. His parents are Submucous cleft or problems with tongue
movements?
concerned that he is still only using a few
• Assess hearing in your clinic (Ch. 5).
single words. He has achieved his motor
• Associated disorder. Any evidence of a movement
milestones within the average range and has disorder, e.g. CP?
no significant previous medical history. • Try to engage the child in some one-to-one
activities. Some children may appear to have poor
Q1. How would you assess this child? auditory attention. Does this improve when you
Q2. What other information would you seek? work one-to-one with the child (as in a child 41
V0229-F01906.indd 41 2/13/07 5:38:40 PM

with an attention disorder) or is the child unable BOX 29.6 Pitfalls in assessing verbal
to tolerate this one-to-one direction (raises the competence
possibility of autistic spectrum disorder)?
Beware of the echolalic child or the child using
29 These factors may interplay. chunks of ‘late echoing’, which will give the
impression of a verbally competent child. This
may indicate delayed verbal comprehension or
Q2. What other information would you semantic–pragmatic problems.

seek? Beware of children who initially appear to have
good expressive language using appropriate social
There are a number of aspects of language that need to
phrases but who demonstrate a lack of variety or
be addressed separately. range in their speech. These may be children with
general delay or with very little language stimulation.
Listening and attention
Can the child attend to language?
• Can the child tell you what he or she has been
Verbal comprehension doing?
What level of verbal comprehension has the child • Does he or she tend to copy what you say?
developed?
Phonology
• From the history, get particular examples and make
This is an area that parents often get worried about,
sure that they show verbal rather than non-verbal
but which has the best prognosis:
comprehension. Beware the child understanding
• Is it dysarthria (due to abnormal neurology,
from context alone. Can the child identify single
e.g. CP)?
objects (from objects or pictures)?
• Is it dysphonia (e.g. hoarseness due to disorder of
• Can the child understand prepositions (in/on/
the voice box)?
under/behind) and concepts (big/little)?
• Is it delay (the way a younger child would talk) or
• How many key words can the child follow? For
deviance?
example:
– ‘Put the big pencil in the box’ — 1 key word.
Semantics and pragmatics (Box 29.7)
There are only pencils and a box and it is
This is an area of difficulty that may only become
automatic to put things in boxes.
evident as the child develops more language. It is rare for
– ‘Put the cat under the chair’ — 3 key words.
children to have semantic or pragmatic disorders with
completely normal early language development:
Non-verbal strategies • Does the child have difficulties following
What non-verbal strategies does the child use to com-
instructions, particularly complicated ones?
municate, both for comprehension and expression?
• Does the child understand tenses?
• Pointing and facial expression plus non-speech
• Are conversational skills age-appropriate? Can the
sound to indicate needs?
child turn-take? Is the content of speech pertinent?
• Common gestures, such as pointing, arms up for
wanting to be lifted up and waving bye-bye? BOX 29.7 Pitfalls in parental descriptions
• More complex gestures as a means of self-expression?
Parents often underestimate their child’s expressive
language and overestimate their comprehension.
Verbal expression (Box 29.6)
• Pre-speech babbling or only open vowel sounds?
• Some symbolic noise or word approximations: e.g. Standardized assessments of language
‘hiya’ (for ‘here you are’) or ‘brrmm brrmm’ (for
Numerous standardized tools for language
car play)?
assessments exist and these are described on
• How many single words is the child using that
the MasterCourse website.
Mother understands (not necessarily other people)?
• Are there some learned phrases that are two- or
three-word combinations learned together, e.g. ‘all
Q3. What investigations would you
gone’, or has the child started flexible word joining,
perform?
e.g. ‘teddy gone’ or ‘daddy car’?
• Are longer structures used, e.g. ‘my teddy gone’ or • Hearing should be tested in all children.
‘my teddy’s called Joe and he’s going to bed now’? • Test chromosomes only if there are other
42 • Does the child ask questions? indications.
V0229-F01906.indd 42 2/13/07 5:38:40 PM

• Order an EEG if there is loss of language or some Children with profound and multiple learning
other reason to suspect epilepsy. difficulties
The SLT will be part of a team caring for these children.
Any child with severe language impairment or com-
He or she may be involved initially with feeding diffi-
plex problems should be seen by a paediatrician.
culties and can anticipate language problems.
Key elements for aiding communication in children
Q4. How would you manage this child? with profound and multiple difficulties are:
• Using all senses to give messages about the child’s
The role of the doctor in the management of language world: hearing, vision, touch, taste, smell
difficulties is: • Helping the child to learn to control the
• To identify and address any possible causes (e.g. environment at a basic level: making simple
hearing loss, submucous cleft) choices, turn-taking
• To identify and address associated difficulties (e.g. • Helping the child to develop relationships:
epilepsy). limiting numbers of professionals involved directly
Management of language impairments lies predomi- with the child and working through other people
nantly with the speech and language therapist (SLT), • Using augmentative communication systems.
whose role is:
• To advise parents on how they can help the child
• To monitor young children or those with mild Language disorders
delay Definitions
• To work with nursery or school, advising how to The terms ‘communication’ and ‘language’ are some-
help language development times used interchangeably. Communication problems
• To work with groups of children who have similar encompass a wider range of disorders, including diffi-
problems, to encourage language development culties in non-verbal communication and ability to
• To work with individual children, usually for short use language (as in autism). We will discuss language
intensive bursts of speech therapy problems other than autism here, although this is not
• To advise on and implement alternative always a simple distinction:
communication systems. • Delay implies that language is slow to develop; it is
Details of these alternative communication progressing in a normal pattern but is like that of a
systems are given on the MasterCourse website. younger child.
MODULE S IX
• Disorder implies that language contains elements
that are not part of normal development.
Education • Impairment is the term that is currently preferred
Fortunately, most language difficulties have resolved and encompasses both delay and deviance. Specific
by school age or soon after. Some children will go on language impairment is used for children who
to have reading difficulties. have isolated language impairment with non-
A small number of children need specialist educa- verbal learning skills at a higher level. However,
tional input, which may be available locally at nursery studies show that children with ‘specific’ language
or primary school, but by secondary school age the impairment have a high incidence of other
numbers are so small that the child may need to travel neurodevelopmental disorders.
some distance and occasionally even board at a special
school to obtain this level of specialist education. Prevalence
Studies on prevalence vary, depending on definition
English as a second language and whether children with intellectual difficulties are
Special problems may arise for children whose first included. About 5–7% of children have significant
language is not English. These include: language difficulties without other learning difficulties.
• Late recognition. People assume that there are no Around 1% have severe persisting difficulties.
problems, or that any difficulties in English result There is a wide variation in normal development of
from it being the child’s second language. language. This can make it hard to decide when there is
• Assessment. Is there a problem in the first language an abnormality, particularly when there is delay rather
or is the problem only in English? Trying to assess than deviance and it affects verbal expression and
this means having an interpreter. phonology. Many (though not all) of these children
• Treatment. Should this be in the first language? Can will have corrected themselves by school age or soon
this be achieved? after. 43
V0229-F01906.indd 43 2/13/07 5:38:40 PM

Classification language disorders are due to problems with brain
There are problems with classification of communi- development.
cation disorders; children often overlap categories or • Left-handedness (especially in girls) is often noted but
change from one to another. There is also difficulty not always confirmed. The significance is unclear; it
29
because of the wide spectrum of normal development. may sometimes be a pathological left-handedness.
A practical classification can be used to assist assess- • Clumsiness is found in 90% of children with severe
ment and investigation: language disorder. Studies and clinical observation

• Disorders affecting speech production: confirm this link.
– Neurological problems, e.g. CP • Educational difficulties are complicated and depend
– Structural problems, e.g. cleft lip and palate on the type of language impairment.
(‘tongue-tie’ rarely, if ever, causes speech
problems)
– Dysphonia, e.g. abnormalities of the vocal cords Autistic spectrum disorders
– Dysfluency (stammering), a frequently normal
stage of development between 2 and 4 years Problem-orientated topic:
– Elective (or selective) mutism
• Specific language impairments:
the isolated child ●●●●●
– Expressive language delay Robbie is 3 years of age and has been
– Articulatory dyspraxia, possibly associated with referred by his GP because he has recently
feeding difficulties started nursery school and his teacher has
– Difficulties in producing sounds accurately, in
expressed concern that he may be autistic.
comprehension or in finding a word
Robbie is his mother’s third child and he
– Semantic–pragmatic difficulties. These children
may have had normal early development of
has always acted differently to the other
language but often have had delay or deviance two. Since the age of 6 months he stopped
that resolved. Difficulties become apparent making eye contact and is now a very solitary
later with inability to maintain a conversation, child, preferring his own company to that of
‘getting the wrong end of the stick’, going his family. He spends hours spinning a toy
off at a tangent, misunderstanding rules of top and becomes inconsolable if interrupted.
conversation, or difficulty with puns and His speech development is immature and he
jokes. There are often problems with social tends to echo phrases made by his brothers.
interaction, which may overlap with the autistic
spectrum. Q1. What are the three core impairments seen in
• Children who stop talking: autistic spectrum disorders?
– Usually associated with loss of other skills, e.g.
Q2. How would you assess this child?
neurodegenerative disorders
• Impaired language and social interaction: Q3. What alternative conditions do you need to
consider?
– These are considered in the section on autistic
spectrum disorders. Q4. What investigations should be considered?
Q5. What are the advantages/disadvantages of
http://www.afasic.org.uk finding a diagnostic label for Robbie and his
The Afasic website has information sheets on different family?
types of disorder Q6. What are your management options?
Q7. What is the prognosis for this condition?
Aetiology
Most children with language difficulties not linked
with other major disabilities have no identifiable cause
for their problems. Q1. What are the three core
Children with language disorders are known to impairments seen in autistic spectrum
have an increased family history of language disorders
disorders?
and twin studies suggest strong heritability.
Autism is a specific type of communication disorder,
Associated problems which has some overlap with semantic–pragmatic
• Epilepsy has a higher incidence in children with disorders of language (p. 41) and also with other types
44 language disorders. This supports the idea that of neurodevelopmental disorder. The present concept
V0229-F01906.indd 44 2/13/07 5:38:41 PM

is of an ‘autistic spectrum’, in which the three core situation and many parents have already suspected
features are: the diagnosis. In some children it is less easy, and it
• Impairment of social interaction is important to have reliable methods of assessment
• Impairment of communication so that the diagnosis can be made or excluded with
• Rigidity of thought. confidence and backed up with evidence.
It can be useful within this spectrum to define the
History
type (classic autism, high-functioning autism, Asperger’s
Diagnosis depends greatly on history, so it is impor-
syndrome) while accepting that some children do not
tant to have a framework that will cover the triad of
fit any one of these labels but still show significant
impairments. In addition a standard medical, develop-
features within the spectrum.
mental and family history may indicate a different
diagnosis, associated problems or a possible cause for
Impaired social interaction
the autism.
Eye contact may be present but is abnormal in its
There are formal scored interviews for the autistic
nature (fixed and staring, held too long). However,
spectrum, which have diagnostic cutoff points and
there may be good reasons for a child to have poor eye
may also give an indication of where in the spectrum
contact in the clinic, such as shyness, embarrassment,
the child lies.
wilfulness.
Lack of cuddliness is another popular concept, but
Examination
autistic children may be willing to be cuddled and even
This may identify possible causes, including:
give cuddles back, especially with their parents, though
• Dysmorphism
the parents may describe it as ‘on the child’s terms’ or
• Neurological abnormality, including head size
‘too intense’.
• Skin markers (should include examination
Key indicators of impaired social interaction are:
under Wood’s light for depigmented patches,
• Lack of sharing and directing attention
p. 9).
• Poor recognition of others’ affect
• Poor understanding of social situations. Informal observation in the clinic setting will often
give clues as to diagnosis, but children may act fairly
Impaired communication normally in this structured one-to-one situation, so
In classic autism there will be delayed development it is helpful to observe them in different settings and
of communication, though many autistic children over time.
MODULE S IX
develop some language. About 33% of children with
autism develop some early words and then lose them. Assessing where on the spectrum a child lies
It is often apparent that they had social interactional The formal scored tools will help with this. Beware of
problems from the outset and/or never used their words being too precise early on because this may change
really communicatively. Only 7–8% of autistic children as time goes by and as you obtain more information
have a setback in language development following about the child.
completely normal development in the first couple of
years with acquisition of two-word phrases. Children Assessing the child’s strengths and
with Asperger’s syndrome may have normal language weaknesses
development, but content and use of language may be Each aspect of the child’s difficulties is assessed:
unusual. • Its nature
• Its degree
Rigidity/stereotyped thought and behaviour • Whether it is primary or secondary
These include the hand flapping and turning in circles • Whether it is changing over time.
seen in classic autism and the intense narrow interests Other aspects can be assessed, such as:
of children with Asperger’s syndrome. Some children • Rigidity/routines
have no imaginative play; others will have restricted • Motor abilities
imaginative play, such as going through the same • ‘Dangers’ of special interests
routine, probably copied from a video. • Motivation/reliability
• Obsessional–compulsive behaviours
• Insight
Q2. How would you assess this child?
• Depression/anxiety
With practice it becomes relatively easy to identify most • Temperament
children within the spectrum in the informal clinic • Support systems. 45
V0229-F01906.indd 45 2/13/07 5:38:41 PM

Children are presenting younger with possible autistic Cytogenetics
spectrum disorder and this may present difficulties Around 3% of children with autism have an abnormal
around stability of the diagnostic label over time. karyotype. This figure is higher in children with
29 dysmorphisms, severe learning difficulties and identi-
fiable syndromes.
Q3. What alternative conditions do you
need to consider? Imaging

Social impairment may be secondary to other disorders: Most common abnormalities are of the cerebellum but
• Learning difficulties, leading to social immaturity the significance of this is unknown. Cortical migration
• Dyspraxia, leading to invasion of other people’s anomalies may sometimes be seen, but they are non-
social space specific and will not help in diagnosis of autism or
• Psychopathy (p. 52) discovery of the cause. Features of tuberous sclerosis
• Shyness, leading to social awkwardness and neurofibromatosis may be recognized. Routine
• Conduct disorder, bullying, abuse, depression, imaging is not recommended.
which may all lead to abnormal social
relationships EEG
• Semantic–pragmatic disorders (p. 41), leading Between 21 and 43% of children with autism have an
to abnormalities in social relationships; there is abnormal EEG. The longer the EEG, the more likely it
overlap between these and autism is to reveal abnormalities, but these do not necessarily
• Secondary social impairment, which may occur as have implications for clinical care.
a result of ADHD (p. 33), depression, bullying or
abuse
• Rett’s syndrome (p. 22), but the relationship Q5. What are the advantages/
to autism is debatable; certainly, these children disadvantages of finding a diagnostic
develop features of severe autism but also tend to label for Robbie and his family?
lose them as the condition progresses.
Advantages
• Changes attitudes towards the child positively
Comorbidity (more understanding and appropriate responses)
Children with an autistic spectrum disorder have a
• Mobilizes resources
greater incidence of other developmental and psychia-
• Indicates type of management for specific
tric disorders and these should be sought:
problems
• Learning difficulty is the most common associated
• Gives an explanation to the child and parents
problem in classic autism (70–75%). Also,
• Gives access to support networks.
children with learning disorders may show features
of autism and it is important to ascertain whether
Disadvantages
this is sufficient to give an additional diagnosis of
• Changes attitudes towards the child negatively
autism.
(inappropriate lowering of expectations,
• ADHD.
assumptions about what diagnosis means)
• Depression.
• A label for life
• Affective disorder.
• The label may need to change with passage of time.
• Anxiety disorder.
Q4. What investigations should be Q6. What are your management options?
considered? These include:
• Management of the child:
Children with autism find investigations very difficult
– Medical and psychological
to cope with; therefore consider the reasons for
– Social skills (group work)
ordering them. These reasons are:
– Educational
• To identify a treatable cause
• Management of the family:
• To identify genetic implications
– Parent courses
• Parental ‘need to know’
– Parent support
• Research.
• Information/education about the condition:
Investigations are most likely to be positive in child- – For the parent
46 ren with a severe cognitive impairment. – For the child.
V0229-F01906.indd 46 2/13/07 5:38:41 PM

Goals for management include: most claim only improvement. Most approaches have
• Fostering of development in common a high degree of one-to-one intervention,
• Promotion of learning often with highly structured activities. Some focus on
• Reduction of stereotypy parent intervention and some use professionals or
• Elimination of maladaptive behaviours trained workers.
• Alleviation of family distress.
There are different approaches to management, which Multidisciplinary teams
will be used in conjunction with each other. Many children will benefit from going through a
formal multidisciplinary assessment and management.
Pharmacotherapy This may be at the local Child Development Centre or
In the US 30% of children with autism and 55% of may be within the community.
children with high-functioning autism and Asperger’s
http://www.cafamily.org.uk/NAPFront.PDF
are on medication. The corresponding figures in the
UK are only 5% and 10%. National Initiative for Autism: Screening and
Drugs will not generally affect the core symptoms Assessment
of autism (and there is no evidence at present of long-
http://www.nelh.nhs.uk
term benefits) but they can ameliorate symptoms. It is
important when considering medication that you are National Service Framework for Children. Autism is
one of the topics picked out as an exemplar condition
clear about the specific symptoms you are targeting and
that ongoing behavioural and educational management
is continued. Ensuring safe and consistent administration Q7. What is the prognosis for this
and monitoring for side-effects is essential. You also need
condition?
to consider who you are treating (child, parent, doctor,
teacher) and make sure you have informed consent as The degree of independence reached by a child within
far as you are able. Substances suggested as a general the autistic spectrum depends to a major extent not
treatment for autism are: only on the degree of intellectual impairment, but also
• Secretin. There is no evidence from randomized on severity of the autism. Parents have a real anxiety
controlled trials of any benefit. that some children with high-functioning autism and
• Vitamins, minerals, essential fatty acids and metals. No Asperger’s syndrome will find it hard to manage on
studies have shown any effect. their own. Undoubtedly some people with autism do
MODULE S IX
• Gluten- and casein-free diets. These have their supporters very well, and there are a number of accounts written
but robust evidence is not yet available. Some children by autistic people about their experiences that give an
with autism have distressing bowel problems and insight into what autism is like from the inside.
a gluten- or casein-free diet may decrease bowel
symptoms and greatly improve general wellbeing.
Classic autism
Family support Classic autism has a prevalence of about 0.5/1000.
This is important from the start. Some support will This rate has remained fairly steady over the years.
come from the medical and educational teams but The corresponding figure for Asperger’s syndrome is
families should also be made aware of local and around 0.25/1000.
national parent groups. There are practical issues that Autistic spectrum disorder prevalence is between 3
can be addressed and which will make life easier. and 6/1000, rising to nearly 1 in 100 in studies seeking
out the whole range of disorders. It appears to be rising
Behaviour management but this is likely to be because the diagnosis is being
Difficult behaviours can be analysed as follows: more readily recognized.
• Instrumental: in order to get something
• Social: in order to get attention
Aetiology of autism
• Self-stimulatory.
A long list of associated conditions have been found in
The first two types of behaviour are most amenable studies of children with autistic spectrum disorder:
to behaviour therapy and the last type to drug treatment. • Fragile X syndrome (p. 32; either some autistic
impairments or full autism)
Educational management • Tuberous sclerosis (p. 9; 43–60% of children with
Many educational intervention programmes are advo- tuberous sclerosis will have autism or pervasive
cated in autism; some claim to provide a ‘cure’ but developmental disorder) 47
V0229-F01906.indd 47 2/13/07 5:38:41 PM

• Phenylketonuria (p. 97) The characteristics are as follows:
• Neurofibromatosis (p. 9) • Presentation is usually after 3 years of age but, with
• Down’s syndrome (p. 30) hindsight, indicators can be identified in the first
• Williams’ syndrome 3 years of life.
29
• Duchenne muscular dystrophy (p. 17) • Language may be normal, at least superficially.
• Non-specific dysmorphisms and other • Presentation is often via the school with
chromosomal abnormalities behavioural difficulties, school failure and

• West’s syndrome (p. 8) ‘oddness’. The difficulties become apparent with
• Hydrocephalus (p. 24; 23% have autism) the pressures for social conformity at school.
• Severe sensory deficits
The terms high-functioning autism and Asperger’s
• Congenital infections
syndrome are sometimes used interchangeably but
• Encephalitis (p. 292)
there are differences.
• Hypothyroidism (p. 108)
Asperger’s syndrome is characterized by:
• Fetal alcohol syndrome
• Highly developed special interests
• Neurometabolic disorders (p. 93).
• Verbal IQ being greater than performance IQ
Autism is probably under-diagnosed in many of • Frequent clumsiness
these conditions because, once a child has a label, there • More social interest than in high-functioning autism
may be reluctance to pursue an additional label. • Socially approaching (but may be unusual or
A variety of possible aetiological agents have been inappropriate)
proposed, but convincing evidence for any of these is • More insight into own thoughts and feelings
not available. There is no evidence linking measles/ • Greater desire to fit in
mumps/rubella (MMR) vaccination to autism. • Cognitive (but not empathic) understanding of
social rules.
These difficulties can give rise to:
• High levels of anxiety
High-functioning autism and • Psychiatric morbidity
Asperger’s syndrome • Socially manipulative behaviour, such as school
These are not ‘mild’ autism! The distress caused to the exclusion
child can be greater than with ‘classic’ autism because • Problems gaining independence
of the awareness the child has of the difficulties • Vulnerability, both socially and practically.
without the ability to understand them.
What worries me is that when Jonathan leaves school he’ll
Acknowledgement
have 6 or 7 GCSEs but he won’t be able to go out and buy We would like to thank the Sheffield Distance Learning
himself a shirt. (Parent of a boy aged 15 years) Programme for Paediatric Neurodisability and in parti-
David knows that when he walks into the tennis club he ‘gets cular Dr Hilary Cass, Professor David Hall, Dr Mike
it wrong’, whilst his younger brother Peter is fine. He doesn’t Smith, Dr Connie Pullon, Dr Peter Baxter, Sian Bell
understand why this is and he gets very depressed. (Parent of and Dr Karen Whiting for their kind permission to use
a boy aged 11 years) materials they have written.
48
V0229-F01906.indd 48 2/13/07 5:38:42 PM

Neil Kennedy Malcolm Levene
Disorders of bones 33
and joints
Leaming outcomes 81
Clinical assessment 81
Developmental dysplasia of the hip 82
Arthritis 83
Henoch-Schonlein purpura 88
Rheumatic fever 88
Polyarteritis nodosa 88
Systemic lupus erythematosus 88
Dermatomyositis 89
.. • •
• Be able to screen a child for joint disorders
• Be able to undertake an examination of the major joints
• Be able to undertake a screening test for neonatal development dysplasia of the hip
• Know the common causes of limp
• Know the presentation and management of bone and joint infection
• Know the common causes of joint swelling
• Know the presentation, classification and management of juvenile idiopathic arthritis.
en
Clinical assessment
Fxarnination of the joints is often only a cursory part
of ... rouline diniGlI cxamination (eh 5) If il child
of an inflammatory CdUSt.:. Pain cxaCt:rb:l.I~d hy
cxerci:.c sU)IJ;C'lts d rncch"'niC<11 (;'lUse and usually
re:.olvt's with a period of rest.
• Are tll(~re COIl5/IWt;Olltl/ symptoms? TIIL'Sl' incllK!t'
-><
prc~nt'l wilh ioint or bone pain. then more careful fc\"cr, f,lIiguc. anorexia. weight loss and rashes.
hislory and examination arc required. • Arf' tlwre emmiOlllll, fillll/ly or Sc!IOO/ ref,lIl',l problt'IIlSf
Non organic causes of limb 1J'lin OIfC common and
Me discussed ill Chapter 24
History
Imporldnt qut'stions in the history include:
• WI,<ll 1$ flIt' tldtllrt' of 01(.' ('<'ill (dr/lira/gil')! Ask
Examination
about location, exacerbating and rclie\'in~ factors, • Gdit With an :mtalgic (painful) gait the child
radiation and timing of OlISt't of the p<lin (wh£thcr spends as little time as possible during the walking
it IS rel:'lted to times of the day). Pain or immobility C)'de on the painful leg. Irnport:tnt poilUS include
(stiffne5s) first thing in the lllominK is SUAAcstive the :lbility to weight-bear on a joint. 81
BOX 33.1 Screening examinatIon for significant Is the hip in joint?
musculoskeletal disorders Inspect glute'll fold~, Arc they symmetrical I Are the
legs of equal length? If either of these is <1bnorm<1l, it
1. Walk on tip-toe and on heels.
suggests the hip Illay be dislocated.
2. Sit cross-legged on floor and then jump up.
Test hip abduction. IfllH:: hip ahducts flllly, it is not
3. Extend arms straight out in front and make dislocated.
~ a fist.
,-
'0
1J
4. Place palms and fingers flat together with
wrists extended 10 90° in a 'saying prayers'
position.
Is the hip stable?
If the hip is not dislocated, then its stability ~hould
be tested by Barlow's test. '111e essence of this test is
ffi 5. Raise arms straight above head.
to exert downward pressure through the ft::Jllur to sec
en 6. Turn head to look over each shoulder.
whether the hip can be dislocated ha(kward~, If the
"5
.0
• R,jslr. Look carefully for rashes (in panicuJaron the
hip is unstable, 'l 'dunk' is felt as the head of tile femur
is pushed over the lip of the acetabulum .
fan~. eyelid~, flexor surfilces ofioints and knuckles).
'0 • JI,,'lIscie IImdcmcu or wasciJJS. Assess muscle strength.
~ • loill! t'XlllllilliUiO/I. Look for: Can a dislocated hip be relocated?
If the hip cannot De fully aDducted and dislocation
""E
l:vic!CT1CC of \\'a~t ing or Iimb length differences
Redness of the Joint is suspected, then the Ortolani lcst is used to attempt
o Swelling to relocate the hip into ioil1t. Upward traction on the
,~
o Itmge of 1ll0WIlll'llts (are there joint femur is used to relocate the hip in the acetabulum.
contrarlllresl). Relocation is accompdJlil2d by d 'c1ullk' so..:nsatiOli.
It may be useful to perform a screening musculo- Once the hip is relocated, then the hip can he gently
~keletal examination if in doubt a~ to whether <1bducted
the child has an organic cause for the joint pain
(Box 33.1). A child who can perform aJlthese functions
without difficulty is unlikely to have d significant mus- Ultrasound assessment
culoskelet<ll problem. Ultrasound examination of the hips is a wry useful way
of determining hip architecture and is widely used to
assess the child who is at high risk of hip dysplasia or
Developmental dysplasia of where there is an equivocal screening test.
the hip
This refers tn a di~order of hip development that may Management
predispose to dislocation either at birth or later. Ilip The dislocated or dislocatable hip should be reduchl
imtahility is prc~ellt ill 1:60 neonates and, before into the acetabulum and maintained in the position of
the introduction of widespre<ld c1iniC<l1 neon<lt<ll hip flexion and abductiollulltil it becmllcs stable. A ViHiety
screening, late dislocJ.tion occurred in 1-2 per 1000 live of harnesses are Llsed to rnilintain stilbility, including
births. This incidence has fallt::n with routine screening the Pavlick harness, the most widely used. The hips
but theconclition still occurs in 0.8 per 1000 live births. arc located into the harness under the ~upervi~ioll
Risk factors for developmental dysplasia include: of an orthopaedic surgeon and Ihe harnes~ is worn
• Gender: it is six times more comlllon in girls than continuously for 12-1 (, weeks I~egular adjustments
boys to ensure appropriate fitting of the Ildrne~s arc
• First-born children required.
• Breech position in utero Dislocation diagnosed after 4 months of age will
• !\1;llernaloligohydramnios. require specialist orthopaedic attention. Initially J
2·week period of traction i.~ initialed, followed by
surgical intervention to ensure the hip is relocated and
Screening remains stable.
All newborn infants should he routinely
" examined for hip dysplasia. Repe<lt screening is
Complications
recommended dt 6 weeks and 6 months of age
by the CP or health visitor. Avascular m::crosis of the fel11or<ll head is tho..: 1110st
82 Newborn screening involves the following elements. impomHlt serious complic<1tion This Illay arise;'ls the
rt"sult of forceful reduction or immobilizing Ihe hip BOX 33.2 Causes of acute limp In children
tOO fully in an abduction harncs::. or ~plinl.
• Transient synovitis (sometimes known as 'irritable
hip')"
• septIC arthritIS/osteomyelitis of hip, femur Of
Arthritis knee"
• Trauma"
• Perthes' dIsease
the child wrth a limp (see also • Slipped caprtal femoral epiphysis
Ch.24) • Juvenile idiopathic arthntis
Conor i6 4. He i6 brought to the accident • Idiopathic chondrotysis
and emergency department having developed • Neoplastic: osteosarcoma/bony infiltrate of other
malignancy
a right-6iaea limp a day ago. He has had a
, Common cause
recent 'cold'. His mother tells you that he
fell off hi6 6cooter 4 days ago, but other
than cutting his knee, he had no major Injury. Table 33,1 Features differentiating septic arthritis from
irritable hip
On examination, he is pyrexial (38.3°C)
Feature Irritable hip Septic arthritis
and appears mildly unwell. He ha9 a healing
Fever Mdd "<Jh
abrasion on the right knee, which doe9 not
Sysl~'c up:3CI'l Norlelm d
appear to be infected. When a9ked to 9tand,
~e cell CCMXl! (W(X:) M~d T
he will weight·bear only on hi9 left leg and
holds his right leg flexed at the hlp. When Ery1'1fOC'11e seclrnenl<rkln Midi
rate (ESR)
lying down, he will allow you to flex, extend,
adduct and abduct his hips. However, pa99ive l-"","'''' '''''''"
I~ ... throst?
internal flexion of the right hip CaUge9 him pain.
"" No
Ql. What IS the differential diagnosis 01 a child With imponam differE'ntial diagnosis is septic arthritis
a limp? and the main distinguishing features <HI' shown III
Q2. How can you dIfferentiate septic arthntis from Table 33.1.
'irritable hip'? CanOT prohahly has 'irritable hip'.
Q3. What are the causative organisms of septic
arthritiS? Q3. What are the causative organisms of
septic arthritis?
• s/(lpl1)!/oC()('(ljS mm'tlS (75% of cases)
Q1. What is the differential diagnosis of a • Croup A ~ hncmolylic strt.:ploC"OcCUS (Sln'/'.
child with a limp? /1yoxelles)
These <Hl'li~h:d in I~ox 33.2.
Q2. How can you differentiate septic

• Slrep. rl1etmWlIIlll'
• Croup U ~ haemolytic streptococcus
Osteomyelitis and septic arthritis

(lll'Ollillt-"I (lilly).
-
Ul
><
arthritis from 'irritable hip'?
In thi:. conditiontlwf(' is infection in tht' hone II most
'Jrrit,lblc hip occurs in up 10 3% ofchildren octw('cn 1 cOllllllonly arises as the result ofhaematagenous spread
and 8 }'f'ars, mort" commonly in boys. I'ypirally a child and rarel)' following trauma. Septic arthritis liMy devt"1op
will develop a limp.1 few days after an upper respiratory as a result of dircrt ~pR'3d from adJacent o~teomyelilis,.
lrdel infection 111e child remains systemically well. e.1lt'Cially III )'Ounger children and neonates. 1111." most
On l'xdlllinillion, internal rotation of the hip may he common site of involvement is the lI1et.lph)'~is of long
Iimiledl he child rests with the hip held in flexion bones or \'crtcbr.ll bodies.
and eXlcrnal rotation. Ultrasound will often show all Osteomyelitis may be acute, subanl1e or chronic.
effusion of llw hip. The ~yndromt' is probably caused Subacute is usually the result of less \'irulcllt olg'-llli"ms
by a transit'nI reactive hip synovitis. MOSl cases settle and chronic w.ually arises as 11 r('Slilt of il1<ltlequalely
in 5-10 days. with symptonldtic lre,Hlllenl only. The 1rt"alt~d infection 83
Presentation
['ain and loss offunetion are the most common preS(>nt~
ing fc.1tures "Inc pain can usually be localized by the
child and if a lower limb is involved, limp or refullal
10 w"lk is common Hip infi'C110n results in the child
lpng ..",ith the hip flexed and in internal rotation, with
~ the knee in flexion. Localizing sign:> .m: le"S obvious
.-o
"tl
.... ht'n the primary infection arises 10 pd..·is or spine_
"eon.lIes presenl with non specific signs, including
unstable temperature, poor ft:t.'ding. pallor, recurrent
ffi apno('<1 and pseudoparalysi<; (maintaining the limb
<Jl completely immobile). The affected limb may be
ill
C swollen and tellder to toudl. Di'lgllusi~ requires ;lware-
o IW"~ of oloolt'ornyelitis ;IS a Gluse of severe infection in a
.0
nOll <;pecifically unwell baby.
(;
III/C( rill~ ()I~(/ni.\ms
~
ill In r\lmp'-' Sli/ph. (wrClIS causes 7';0/.., of osteomyelitis
-e infection, Other infecting organisms include group A
g ~-h.ICl\1ulYlic slreptococcus (Slrf'{l. pJ-~)se/ll~) and Slrep.
,,,wlmIOlli(Il', In the neonate, group 1\ f!-haemolytic
Q
streptococcus is rdati..dy common f-(llemopllilllS illJ1l1ell-
Zolle type b (1Iib) is now vcry roue due to widespread
iIIlIllUlliziitioT1. Dtlll'r organisms to Iwconsidl'red include
llItM>rculosis (usually insidious in onset), brucellosis and
AI}{Op/llsm.1 pm.>llmollille (these latter two may both Fig. 33.1 X-ray of femur showing periosteal reaction in
CilllSt: low.gr.ule <;eptic arthritis). acute osteomyelitis
Investigations
Aspiration of a septic joint is always rL'COllllll('nd..d
I-ull blood count. t:.SR and <..:;. reactive protein (eRP)
for diap,nostk purposes. Surgical drainage is necessary
usually suggest infection. Blood cultures should be-
for <;cptiC arthritis of thl' hip 10 minimize risk of
taken prior to starting antibiolin. (uhllrl' from bone
avascul.1T necrosis ofmc fellloral he.ld.
or a Joint effusion may identify tb(' org.lnism, together
An ill d1ild will rL"quirc supponivl.' 'MI.', often Dn an
with a marked pleocytosis in the :.ynuviaJ fluid.
intcn<;iw care unit.
111c firl'1 X-ray change i~ periosteal rt'daiol1 (Fig. 33.1)
;Uld i.. M'en wilhin a few d.l}"S of infeCtion with bone
Complications
chanf;es later. Radionuclide bone SGIllning may rcvt:.l1
OlltC'OIIll' i~ lI~uallyg()(X1 with earlytrealmellL Disturbance
.\rca~ of l11ultiple infenion. In M'ptic Mthrilis the early
of honl' growlh may occur foliowil1J..\ M,:plic dl'thrilis or if
radiological fl',ltllres are ost€openia of the epiphysis,
ostoomyelitis illvolves the epiphy~is. c'hrollic cl.\teDmyelitis
incre.lsed joint space and soft lbsul.: swelling. Ultra·
l11ily lead to bune necrosis and sequ~tr,ltion
sound imaging rnay rCWill Ouid in the joint
Management
Farly administration of antistaphylococcal antibiotics
Reactive arthritis
(tlucloxacillin and ccfotdXill1l' in a tll..'Onatc or child Arthralgia :md jOlllt swellin~ m,ly occur directly or
helow 2 years; f1ucloxacillin and ampicillin in an older indirectly as a result of il l1ulll~r of infl'CtiOllS Viruses
chIld) in appropriate dos.lge is essential. A broader- such as rubella, pan.ovims (erythrovirus) and varicella
spectrum choice is recommended in inullunosuppressed commonly Glll5e a shon period of arthralgia.
childrcn until the organism has been idl'ntified_ It is True 'reactive' arthritis occurs ,Ifter l'l\ll.'ric infection
recomml'n;:!l'd that intr,lwnous .1ntibiotics are used for wilh S<JlfIltJllell.J, SlugrlkJ, Ymmlll and Gml/'}'fMIClfT and
at least J days, followed by an oral course for 3-4 weeks is o(len associated with the child expressing the IILo\ B27
if the f;.....el hdS settled. NL")Ililtcs requirl' a longl'r intr"· antigen loint(s) of the lower limb drl.: usuOllly in\lOhfil
VI'IIOUS course, in an asymmetriGiI manner. OilClylitis (swelling and pain
'I he role of bane drilling in the management ofthi:. of interphalangeal foints) m.1Y also occur. Non-steroidal
condition is controwrsial. Biops)' for microbiological anti inflammatory drugs (l'SAlDs) MC indiraIPd until
84 diagnmis may oc uSl'ful pilin and swelling regres....
Swollen joints BOX 33.3 Differential diagnosis of a child wtth
limp and JOlOt effusion
Problem-orientated topic: • Infection
- Viral arthritis
swollen joints - Septic arthritis
Stacey (3 year!:> old) pre6ent5 in the - Reactive arthritis
outpatient department. She has been • Juvenile idiopathic arthritis (JIA)
complaining of pain in her knee on and off for • Vasculitis
- Henoch-Schonlein purpura (HSPI
6eVeral week6. The pain is mainly in the momlng.
- Kawasaki disease (p. 286)
and gets better over the day. In the la5t - Polyarteritis nodosa
10 day5. ner left knee has swollen. She Ie
• Trauma
otnerwise well. On examination she has an • Autoimmune disorders
effu6ion of the left knee. There Is mild pain when - Systemic lupus erythematosus
you pa5sively flex the knee l7y more than 60°. - Juvenile dermatomyositis
• Malignancy
Q 1. What is the differential diagnosis for - leukaemia (p. 418)
Inflammatory arthritis in children? - Neuroblastom~ (p. 421)
Q2. What is the classification of juvenile idiopathic • Blood disorders
arthritis (JIA)? - Sickle cell disease (p. 263)
- Haemophilia (p. 268)
Q3. What type of JIA does Stacey have?
• Drug reactIons
Q4. What are the principles of treatment of JIA?
Q4. What are the principles of treatment of

Ql. What is the differential diagnosis for JIA?
inflammatory arthritis in children? These are sUlIlmMizcd as follow~'
'I he differenti.ll di;l~nosis is li~lcu in Box 31. '3 • An NSAID is Ih.. firSi-line drug.
• Intra-articular conicosteroids drc vcry cfTcCli\'~ at
relieving pain.
Q2. What is the classification of juvenile • .\-tcthOlrcxatc is indicated for persistent synovitis
idiopathic arthritis (JIA)? • llwTe is only a. veTy limitoo role for sy:.lcmic
'Ihe most rc<el1l c1assificalion proposes the following corticosteroids.
~ublypes of II A: • ""I,lllab>ement must bt>: within a muhidisciplinJIY
\. ~}'Slemi( arthrITIS ,..:1m under the supervision of a pJediatrk
2. Oligoal1iculal' Jl'thrilis rheumatologist.
(,I) PnsislcllI '....Iule dctJils of m.11l:lgemenl arc discusscJ lJelow in
(b) l.xl..nd..d
3. Polyarthritis: rheumatoid factor (RF) neg3livt:
4. Polyarthritis: RF pO'litive
5. I.nthesitis-rt:lat..d arthritis (inflammation at
insertion of tendons into bones)
the s("ction on 11/\
Juvenile idiopathic
-><
Ul
6. Psoriatic arthrilis arthritis (JIA)

7. Other arthritis 111i~ repr("sents a. spectrum of disorders mus' n:Cl>ntly
classified as )lA. II is ,I diSt'ase of children wilh onset
@ http://www.medscape.comlviewprogram/5690 beluw I Ci years of age :md presellls as synovitis (joint
Juvenile IdiopathiC ArthntlS: Irl$lghts Inlo ClaSSification, swelling, limitation of movement. or I'ain) pt:rsi~lillg
Outcomes and Trealment for at least 6 wccks. In addition, vilricties of 11/\ include
JilTerclU distributions of synovitis and som("limes other
dinirnl involvement ')uch as skin, eyes and IlCan.
Q3. Whallype of JIA does Stacey have? rhe incidence of IIA is 10-20 per 100 000 chddrt'"n
Stac!.-"y probably has th(" oligoarthritis form of IIA (sec in Europe and Ill{' liSA 'Jwice lht'" nllmber of girls as
bt-IQ\~' for a description of this condition). hoys art'" a(f("oed. Ihere an" twO p<.>ak agcs of onsel: carly 85
and 1.110':_ In the early group presentation is at 1-3 rears Affeaed childrE'n lIsually h,we positl\'t' antinuclear
.md is mainly of Ihe oligoarthrilis foml, affecting girls dntibodies (A."\lA).
'Inc SL"Cond <lgc peak is at 9 years. and boys and girls
are equally affened. Polyarthritis
Ihi" refers 10 di'iCl~ .Iffceting five or lIIore joints during
Ihe fir.>t 6 momhs ofillnes5, and ocm", in ahout25% of
<II Basic science
dlildren with IIA. II usually involves joints symmetrically
E I'here is a <;trong genetic basis 111\ ha<;cd on silllo\k ·1 he poly.ulhriti:. e<l11 be further ~ubtJividuJ into sero-
'0 10
'-c
'0
nucleotide polymorph isms (SNPs, eh. 9) or the major
histocompatihility colllpkx (Mile) 011 chromosome
positive and seronegative forms, bd~"(1 Ilil wh('thl'r or not
I~M rheumatoid factor is present. Seronegative disease
III 6. Ihe human leucocyte antigen (III.A) gt·nc.~ comprise is much more COlll1110n than scropo:.itivc diseasc in
<II ,Ill illlportJl1t part of the "lite and susceptibility to JIA children.
Ql
c is panicul,uly a~S()cialcd wiLlI HL.A A2. DRS, DRS ,lOd Seronegative polyanhritis has a peak incidence at
o DP!Jl"0201 In older boys, oligo:lrlhritis is assm:ialed 6-7 ycars and I1My be insidious or morc dggressivc in
D
with lilA B27. Genetic susceptibility may fe-quire a some children. ~ropositive dis.::ase start" later in laiC
'0 St'Cond clwironmCI11.11 trigger to induce disease. Triggers chiJdhood or adoJescence and affects sm.1l1er joints of
<II
~ such as inft'ctivt' agents may <lCCOUlH for st-"asonal hands and feet.
Ql vilei.ulans in the onset of this disease.
'E Innammatioll is 1I11:clidted throu~h expression of Systemic arthritis
g CYlOkines, a family of soluble proteins th:1t c.xcrl either In this form, joint involvement is acwmpallied b}"
o pro-inflammatory or anti-inflammatory activity. In )IA fever and other systemic features. It <lCCOltntS for aoom
10% uf case. of JlA dl1d occurs at a pc.1k age of 5 years
ct>rtain pro-inn,llllllhllOI)' cytokincs, such as tumour
necrosis fanor-,tlph,t (TNr-a), induce release of tissue- ·Ihe fever usually follows a characteristic pattem, beilllo\
destroying metalloproteinases 0111(1 stimulate n,'least: present for at least 2 week.s, <lnd spiking once or twict'
(If other mClIl!x:1S of the pro-inflammatol)' cy10kine ,I day, u:.ually in the eYening, ilnd rcturnin~ 10 normal
cascade "I "JI-ft i" produced by aniv,ltl.:o llhtcrophagcs, bet\\'et'tl spik.,s (rig. :,n.2). t\ P:lle pill!.. l\I<tcular rash
I' lymphocytes ,md synm,jal cells, and cOlllribute. to and malaise are panicularly common when the child i<;,
joint destruction. pyrexial. Lymphadenopathy, hcpalOmCJ}1.ly or spleno-
megaly is aIM> commonly present. &~tlUSC of the
similarity to malignancy in the way this disrnse \lresentS.
Clinical features olher conditions must be: carefully excluded (eh 51)
R Ihl' d.1:."if.ll prc:;entauoll of J11\ is joint swelling. Joint manifC'>I,1Iioti is ..... riable but is IlIO:'! commonly
of the polyanhritis form. ~me childrl:'tl haw a very
redness, pain or t~ndernl'ss in the affected joint,
and limit.ltion of joint movement Morning aggressivc form, with joim destTuaion wilhin 2 years
stiffness i:. a willmon complaint in children. 111(.>
presentation Ill<ly be dramatic or protc<ln, Jlld SYSt~lllk
Investigations
fe.uurcs are seen in systemic anhritis
rhe form of IIA C<tll be defined on the b,lSis of joint 111C presence of antinuclear antibody factor (A "JI) and
involvement <I:. well as involvement of other organs. r1WIIlTl:ltoid f,H"tor (RF) is import,lllt in d.l:.sifying the
disease A positive ANI' in oligoilnhriti:. i~ a risk factor
Oligoarthritis for u\'citis.
Oligoanhritis ref('rs to dbease dffl.'Ctillg 1-4 joints Ultrasound is a :.ensitivc imTStig.1.tion for joint
during the first 6 monlhs of the illness It is thl' most effusions and may hf'lp guide nttdle ,,"pir,llinll of fluid.
wmmon form 01 llA dnd accounts for 50% of affected Radiology may show the followlllg fe.11Ures
children: mainly-girls with pea!.. age ofonsct at 1-3 years. • Enrlpi.":/IS: !'Criarticular osleo!'Cnia (I;ig. 33.3)
It most commonly presents imidiollSly with isola\('(1 • IllIermi"dj(Ilf'~ISlls: conical ern'lion:. (rig 'HA),
join! in\"olvcmelll, particularly of knee or ankle, or joint space narrowing and subchondral cysts
more rarely ,In upJWr limb joint. Eye invokcment • I.IJle sig/Is: dt.~tructi\'c ch.lllges with ankylosis .1tld
(uveitis) may occur ,1nd all affecled chi ldren "hould bo:: growth anol1l:lli(":i.
regul,uJy screened by an ophthalmologist
The child m<ty present with a limp but [,.lTely COIll-
Management
plains of severe pain On ex;unin<ttion the joint is hot
al1d ~wollcn and an effusion may be present. Clinical 'Ihe management of children with Chrullic disorders
signs inrlud... redunion in passive movement, which muSt be wilhin iI multidisciplinary leam (Ch. 18) and
86 may rt'l>ull in contractu res in long-standing discil!>e under til(" supervision of a paediatric rheumatologist
10 14 18 22 02 06 10 14 18 22 102 06 10 14 18 22 02 06 10 1~ 18 22
Day 1 Day 2 0.,3 Day 4
40'
39'
38
37 + •••••••••••• ............... j .
36'
35'
I
Fig. 33.2 Typical temperature chart 01 a child with acute-onset systemic rheumatoid arthritis
Fig. 33.4 X-ray showing destructive changes of carpal
Fig. 33.3 X-ray of knees showing periosteal osteopenia in

a child with seropositive rheumatoid arthrItIs
bones in a child with polyarthritis
!kcently, ,mti TNF therapy has been shown IU gin'

significant benefit to children with polyarticul.u IIA
-><
U)
Physiotherapy aims to maintain ioint fUllCtioll, with who failed to rec;pond 10 methotrexate. It has bl.~11
an OCCulMlional lherdpisl 10 faci1il.ll~ norm,ll living shown that 60 iO'*. of children who faillU R'SI){)lId 10
skills .1nd pr()\'lsion of aids to overcome impairment. lllethotrcX<\tc show some impro\'t~lllent with anti INF
Well-fining splillLS to support aculdy inOdlllcd juints therapy. Lung-term safety of these agents has not ~n
are of panicular import,lIlct' fully assessed in children. Further drug lIl<1l1dgt'IIlt::1\I
N$AIDs art' the first-lint' drug at diagnosis. Inlra- schedules depend all the type of jI" lhat the child
articul.u cortiCOSIt:roids arc very effective at relieving show). 111t:' role of systemic conicosteroids in 11/\ has
pain and may prc\iCnt or rt'duct' synovial dam"ge and reduced in recent years with Ihe introduction of more
dis"bihry \1t'lhOlr~xatt' is indicated for persiSlenl effective drugs such as methOlrexate II may Iw \·aluahle
synovitis and has been shown to be effC<live for "II for inducing rt:lIli~si()n in panicularly aggressive forms
I}'IX-S ofllA. of Ihe dise.lse. 87
Complications BOX 33.4 Modified Jones criteria for the
I dlagnO!U8 of rheumatic fever
Uveitis occurs in 10% of children with )IA. Acute
painful iritis is r,lrC but is .seen p..·uticularly in children Major criteria
Wilh cntllt..':litil> P.lilll~~ ,mtt'rior uveitis is more insi- • Polyarthritis involving large joints and flitting'
dious. ,md if unrecogni7Rd, may CIUse severe visual • Carditis'
~
imp,lirment. pdfticularly in school age children with • Chorea (Sydenham's)
oligoanhriti,,; it is ~trol1gly al>..odated with A"t\.
,-
'0
tl
Regular ophthalmological asse"Sments are necessary
for rcrogni.ling .lIlt! trcating this condition.
•
•
Erythema marginatum
Subcutaneous nodules on extensor surfaces
C Minor criteria
111C major rOl1lplic<lIiOl'.. of lIA are bone t>rosion
'e"n le.1ding to disfigurement and major mobility problems. • Fever
".8c !\. multiprofcssional approach is required to minimiLe

the de'itmniw pOll'lltiill of this condition.
• Arthralgia
• Prolonged P-R interval
• Elevated ESRlCRP, leucocytosis
'0 • Prev;ous rheumatic fever
~ Henoch-SchOnlein purpura • Common.
Q)
Ilt'noch-c.,dHlll lei n purpura (lISP, set' also pp.
'Eo 134 and 26i) is a vasculitic disorder affccting
,!!1 joints_ bowel ,1IId kidneys (I'. 203). The cause Clinical features
o IS unknown hili in SOlTlt' cases liSP is apparelllly rhere are no specific markers of rheum.ltic fever, but
tris;gcred br an upper respiralOry lr,lel infection. the diagJ10l>is b madc 011 thc ba~is of the prcscncc
It Ius an incidence 01 10-15 per 100000 children of a numlxr of cliniOl.I features that are described as
and Wiually pr('senlS in children below the age of 10 the modified lones criteria (Uox 334) lhe diagnosis
years, \"ith a peak at 5 years is nMde on the presence of two major criteria or one
Childrcn PICSCIll mOSt commonly with a purpuric maior and two minor crileria, together with evidence of
rash charaoeristirall}' involving bUllOCk.., lower limbs recent group A streptoco<c,ll infection (poSiliw throat
and elbows andlor anhralgia with joint swelling (see swab, elevatcd omislfcplOl}'sin a tilrc (ASOT) or Dlher
DVD 28).Abdominal paino<cuJ1;commonlywith blood antislrcptOCo("cal anlibodi,''')'
in the ~lool, hL11 'Wri(}ll~ hleeclingand bowel perforation,
(~,., http://www.arthritis.org/conditionsl
although recognized, are rare_ Renal involvement
...., DiseaseCcntcr/jra.asp
(hacm,lturiafprolcinuri,l. rarely hypencnsion) occurs
in <;00/,., of ca~l'~. but pt'~i ..ting r":llil] di~":il ..e i~ rare and Management
is seen in only 1% of ca..es. llrinalysis for proteinuri:l • Eradication of streptococcus with penicillin for
should be unden,lkcn r~ularly throughout the course 10 days
ofllw illl1l's~ 10 idclHify n;llal involvcmcilt. • Symptomalic relief of Mthr<1.lgia with NSAI Ds
IISI' is L1Sll,11Iy.1 relatively mild and henign condi- • Steroids: reserved for PilllCMditis
tion thai resolves fully within 2-3 weeks of its onset. • Prophylactic pcni,illin "f:;fliml fllr1ht:r ~1rt:plOcoccal
Rn un":.ll CpiMJd":l> llLdy 0(\ lit' OVO::I" the nexl few wceks infedion for ') years
or months
M,ln,lgclllcnt issymptolll,ltic, with simple analgesics Polyarteritis nodosa (PAN)
for l)din rdief. Thc Illdll<igCIllCnt of reLMI involvemenl
"his rrtrevascu1itic condition in children affects medium-
i" discu<;,sed 011 page 20')
sized arteries and presents with non·spt.."dfte ~)'mplom~
including fc\"cr. lllillili"C, r.1~he .., and joint or muscle
pain Investig.1rion findings .1fe also non-specific and
Rheumatic fever diagnosis is made on abnormal biopsy appear-mce.
Rht'lJllldtic ft'\'t:I' ('kY "I~) P 229) i.. now rardy seen in /l.lanagcmcnt "hould bc under the .. up~rvision of a
Western Furope bUl remains common in the developing paediatric rheumatologist.
world It is due to ,1 complication of in fro ion with group
" Il-hat:'lIIolyti( SIII1I py,'S~" 11,c organi"lll induces Systemic lupus
,1n immune· mediated reactIon, resulting in vasculitis.
Affected O~lns indude joints, hean (pancardilis,
erythematosus (SLE)
arrhythmiJs), skin (crytl,em,l margilmtum, subcutaneous This is rare in children but more common in ddolesct:'1lI
88 noduleo» and hralll (c.,ydenham's chorea) and young female adults_ It i5 an autoimmune condition
with non-specific signs and symptoms, including fOlcial Tht' rnsh IS Ihe first feature in about 50% of Cdse-,
(butterfly) r,lsh, lhrombocytopenia, anhralgia and affeeting eyelids (heliotropic rash), knllckl("i; (Cottron's
fatib'ue R,udy severe renal or neurological SLE may be papuks) dnd extensur slIrf<lCes oflhe knees and elbows
life lhreatening. The [$R is usuallyclc\'3ted tim.! positive (fig. 28.5). I rythema of the nailfolds is a panicular
."-'A i~ fuund in all cases. ahhollgh lhese findin~ feature.
.uc non-specific as they may also be positive in the pre- Often the lI1usde weakness firsl bt>comes obvious
sence of othCT diaWloscs. /I.·!anagcmellt should be under when diffiCtllly dimbingslairs or brushing hair is noticed.
the supervision of a p.1....--diatrk rhellrn;l1ologisL .\,.Iusc!e pain is frequently a feature and calcinosis of lhe
musclc is well rl.."\ognized ,\"Iyositis is confirmed by
elevated musch' enzymes
'Ine mainstayofm,lIltlgcmcnt is corticm;ltroid the",py.
Dermatomyositis (,.... ,1'0 I' 18)
[krmatomyusilis is Oflt:11 a remining Illness. bUI some
rhis is a \'f'f)' rare disorder in children dnd is of unknown children h<lVl" a rapidly progressiyc foml rcsultillK ill
.1ctiOlogy. 1110,: did~nosis i!> made all the hasis of a charnc- major disability
trris\ic ril.,h together with:
• ~rmllletrical proximal muscle weakness
Acknowledgement
• Abnornhll muscle biopsy
• E!cV,ltl'd lTluscie enzymes V./e arc gl',Hcful to Dr R. Arthur for pt'rrni.~'\ioll to use
• Changes on electromyography. the radiogr'lph'\.
-><
rA
89
Chris Hendriksz Carl Harvey Saikat Santra
34 Inborn errors of
metabolism
Basic science and cell function 90
Presentation of inborn errors of metabolism (IEM) in the neonate 91
Presentation of IEM in the older child 92
Presentation of dysmorphism and IEM 95
Specific disorders 96
.-
• Understand the clinical presentation of metabolic disorders in the newborn
• Know the clinical features of metabolic disease in the older child
• Be able to administer and interpret tests of common metabolic disorders in
conjunction with a specialist metabolic laboratory
• Be able to recognize, initiate diagnostic tests for and outline the management of
hypoglycaemia, persistent or recurrent episodes of metabolic acidosis (including
lactic acidosis), acute encephalopathy (including intractable seizures) and
neurodevelopmental regression/dysmorphism.
in carriers, it \\'ould still be sufficient 10 prevent Ji,>ea.~e,

Basic science and cell lhe exceptions are some X-linked diseases, in which
the majority of pJtienls will be males.
function
-><
tJ) The mitochondrion h<l~ it~ O\\ln genetic mdleri:l] and
At a cellul'lr level the nucleus is the centre of or m'ljor is referred to as the mitochondrial genome; it represents
con1ribUlOr to gene expression. Enzymes are proteins only 1% of cellular nucleic acid material. '111is genome
thaI are produced according to the genetic information consists of37 genes and ha~ been fully sequenced. The
provided by the nucleus. ·nlis production process is mitochondria contain aboul 1000 proteins, of which
suppot-tcd hy other organdles that playa crucial pan only 13 are encoded by mitochondrial DNA; the rest arc
in Ihe fin<ll furKlionillg of the em;yme. Knowledge imported but under control of nuclear encuded DNA.
of the supporting organelles that are associaled Wilh Mitochondria are derived from maternal origin only,
dbeasc is incre<lsing but for simplicity the following as the sperm does not contribute to the mitochondrial
model may help ullderst<lIlding. pool. Defl.'Cts ill thc mitochondri<ll gcnc arc inherited in
The nucleus holds the genetic material of the ovum a m,lIernal inherit<lnG~ pattern also called cytoplasmic
(lnd spccm from the point of conception. 111e genetic inheritance. Creat variability within families with
m:llerial represenl,> an cqU<l] coillribution by both maternally inherited mitochondri<ll disease can be
parents in most circumstances Ihis equ<ll contribution explained by the principle of heteroplasmy. Iletero-
explains why in most metabolic conditions carriers are plasmy is the unequal division of miLOchondria in the
90 nUl affe(1m, as although enzyme activit)' will be reduced e<lrly developmental phase, meaning tllal cells <lnd
BOX 34.1 Normal enzyme function plood gas taken Py the admitting nur6e
shows pH 7.07. P8se excess -15 mmoi/l. PCO z
Normal enzyme function depends on:
4.35 kPa. PO z 3.85 kPa and plood glucose
• Normal genetIC malerial in the nucleus
1.2 mmoi/i.
• Adequate energy supplied by the mltochondna
• Functioning Golgi apparatus and endoplasmic
Q1. What are the three important groups of
reticulum
disorders in the differential diagnoSIs?
• Housekeeping organelles, like lysosomes and
peroxlSOmes Q2. What features make an inborn enor of
metabolism more likety?
• VitamIns that are frequently used as co-factors
and enhance enzymatic function. Q3. What further investigations are indicated?
Abnormalities of these systems fonn the basis of Q4. What are the main principles of emergency
the common inborn errors of metabolism. management?
differenl ti~sues can get vari(lblr amOllnl~ of (Iffected

milOchondri.l. It i~ important !O realize th:n nOI all Q1. What are the three important groups
mitochondri,ll disorders are matemally inherited. and
of disorders in the differential
c,Kh ,llld eWIY fonn of inherilancl:' h:.'\ h.·ell a~wciated
diagnosis?
with mitochondrial diseaSE. l'he unifying principle
is th.lI milochondri.ll dYl>funClion is associated with Neonall'S rrf'~('nl with non-specific symploms :md
energy ddidellC)' and Ihal is lhe C(lUW of dise<lst' hence the differential diagnmis is always wide. For
manif~laliom an acutely .lcidotic neonate the lhree /lIust wmmon
The Iysosomcs are intracellular ofRJncJics that are problems Me:
pnx..luceJ by lhe Colgi appar,llus dud are filled by • sepsis
enzymes (Bo'( 'H t) rhese nuclear encoded enzymes • Congenit,ll heart discase
thai are produced in the endoplasmic reticulum • lEMs.
only function at low pH and this is only found inside
Although II "Is arE' individually rare,. Ihey arc:- collec-
the 1~"'i(X()m('<; Ihey haw a houst'keeptng funaion
tively not uncommon and hence the possihility of an
.lnd IOgether with the peroXlsomes, digest org;1nisms.
JF~"I should he cnnside~. as many C3Sl'S art' amenable
defective ol~llldlcs or foreign pilftidc:..
10 early tre.ltmel1l th.lt improves monalit}' .lnd long teml
neurologic.ll morbidity.
Presentation of inborn errors

of metabolism (lEM) in the Q2. What features make an inborn error of
metabolism more likely?
neonate
A number of ftlctol"~ in tlte hislOry ,1Ild t'x;\l1lination
Problem-orientated topic: Illay I";lise thCslIspicion oLmlEM 'Ihese include:
metabolic disease in the

newborn
Mohammed is a 5-day-old papy who has

peen rushed to hospital acutely unwell. He
• Pareillal consanguinity
• A family hislory of unexplain..:d de,llh~ ill infancy
• Maternal hisl0l)' of 111'111' syndrome (haemolr~is.
elevated liver enzymes and low platelets) or acute
fany liver of pregnancy
-
Ul
><
wa6 pom at term and has peen exclu6ively • Pn.." ious miscarri,lges or non·immune hydrops
prea6tfeeding well. He is the e>econd child of felalis
• \\o'ell period before deterioration (cff...' uit·ell'
consanguineous Asian parente> who lost their
dialyscd by pl'lrenta)
firot child last year from cot death. Over the
• I nCel)halopalhy ± seizures
lae>t 24 hour"6. Mohammed has peen feeding
• Metabolic .lcidosis with r.lised anion g,lp
less well, has pecome less respon6ive and now • Raised blood ammonia
look6 pale and mottled. his skin is cold to the • Ilypoglycaemia
touch. He is floppy and tachypnoeic with a • Urinary ketones
respiratory rate of 82 preaths per minute put • DYSlllorphic fcatuH.'S
hae> only mild supcostal recession. A capillary • Unll~llal odours. 91
Types of IEM that present ;n the neonate Table 34.1 Further investigations in IEM in the neonate
These tall broadly into five dillicdl 'syndromcs', <I" Investigation Most Possibly Non-specific
shown in BOI( l4.2. helpful helpfut
"""" """"""
Sen."" \actt,.:e
'23,<; 4
'-0
BOX 34.2 Types of IEM that present in the CSF 3CT'·O 25 \ 3.':
E neonate
.!!1 Acii.Qmif 09P'0&9 '23.5 4
1. Acute intoxication picture
~Ql
CSf- all..,o aces 2 1 3.4."
• Organic acidaeml3S like propionic acidaemia.
sa......., <lrTW1O acods 2 34,5
methylmalonic acidaemla and Isovaleric
acidaemia lX<'II't Orgar'IIC aCids ,-" , 4
E • Maple syl\JP urine disease lJrne amlf10 aGOS 2 >-5
'0 • Urea cycle defects Urne Oligo' and 4 1,2,3,5
poIywoctl<Wldes
f'! • Fatty acid oxidation defects
g • Transient hyperammonaemia of the newborn
Q> 2. Encephalopathy with seizures
c
~ • Non-ketotic hyperglycinaemia or other Q4. What are the main principles of
o neurolransmllter defects emergency management?
D
.5 • Sulphite oXidase deficiency
Obvioll'i:l)' e,1(h IL\-l has its own specific lIIdll<lgclllt:nl
• Pyridoxine~ or folinic acid-dependent seizures
plan, bUl evell before ,) specific diagl1o<;is is made there
• Urea cycle disorders and maple syrup urine Me Mo:veral generic approaches to management that
disease
can be used:
• Congenital lactic acidosis • LlIII/IlIllle Imi. preC1lrso~ likel~' tu be protein, fats or
3. Neonatal liver disease and/or multi-organ some G1rbohydrales: lhen'fore slap feeds.
failure • /ellsure anaboliL" stale: maintain hydration and
• Galactosaemia supply sufficicm c.I1orit..~ in a siml>1I.' form ,>uch
• Tyros,naem,a a:. inlrawnou'i: 10% dexlrose Of glucose polymer
• Neonatal haemochromatosis
solution.
• RernOl!<" roxie melfll'Oljlf!~: may IK'(.:O dialysis
• Falty aCid oxidatIOn disorders
ur alternative pathway stimulation. I'or
• M lochondnal disease
hyperammonat>:mi.1 use sodium ben7..oatc and
• Organomegaly: glycogen storage diseases and sodium phenylbul)'ratt.' as well itS arginine. Choose
Niemann-Pick type C
carnitinc in organic ariclemi{l<;.
4, Non-immune hydrops and/or dysmorphism • Gil'l' wppOrtwc trealmem: correction of
• lysosomal storage disorders hypoglycaemia with dextl"oso.: ,111J <lCidmis
• Sterol metabolism defects like Smith-lemli- with bicarbollate ifl1t:txkd, Trt:ill ~hock ;ll1d
OPitz syndrome ClMglll(lp<lthy..[reat concomit;,'(nt or suspected
• Peroxisomal disorders (can halle Down's-like "epsis with broad-spectrum alHibioti(.\.
features) • R('illl,.odu~e appropriate feed wlwll diagnosis is
• Red cell enzyme defects confirmed' will need metabolic dietician's input.
5. Neurological deterioration and/or energy
deficiency
• MtiochondriaJ dIsease
Presentation of inborn errors
• PeroxlSomal disorders of metabolism in the older
child
It is imponam to consider inherited mct.lbolir diowase.
Q3. What further investigations are
in your differential diagnmis when preserued with .1
indicated?
child in Ihe followingdinical scenarios:
Using the numbered c,IIt..'gori,-"S shown in Box 34,2, • Iinexplained acute or chronic encephalopathy
in\'eslig,lIions can be planned a'i: mOSI appropriate. • Progressive m:urological di'i:('asc or regression
];,ble 14 I will provide the best guess investigalions in • Dysmorrhism
92 •1 neonale. • Ilypoglycaemia .
"lany inheriled melabolicdi5e.l5eS areexlcerbated by dexlrose 10 If)' to r('verse the c31abohe Slale. which m.l)'
metabolic stress such as a prolonged fast or inlcrcurrcllI make any underlymg meL1bolic disorder worse.
illness and ~u, when presented wilh a child who is
di"pruponion,ut'ly unwell with some of the abo,,'"e
Q2. What is your initial differential
f€'alllres. Ihe diagnosis of a melabolic disease mu:'>1 be
considered.
diagnosis?
Sec Rox 14.3.
I..'lrly identifiCiltion of enccpll<llupalhy i~ OfWll dif-
Problem~orientated topic: ficult and signs such t1" drow<;int':'>"- altered behaviour
or Iln:.leadines.s of gait/ataxia should alen )'Ou LO the
acute encephalopathy
faet that a child is cnccphalopdthic. l\:.<;QCialru with
Maya. a 6-year-old girl who is known to ,·omiting. this is a :'>lrong indicallon for im-estigation
have "een previou5ly well, ;s admitted "to the into an inheriled tnt'labolic disease
ward with a ;;-day history of diarrl10ea and
vomiting. Her parents have "een increa&ingly Q3. What investigations would be
concerned a"out her "ecause she ha6 "een appropriate?
Increasingly lethargic. although she ha6 "een
a"le to drink some f1uid&. On examination 6he Fi r:'I-1 ilie invesligalions into a ch ild with acute ellccpl L,l-
lopalhy should includc those shown ill Tilhle l4.2.
appear& 5-10\ dehydrated and &eem& to be
Man)' of tlll_':'>C invesligatitlll\ are also u5eful in
drow5y and confused. She is tachypnoeic and
itlelllif}'ing the causeofhypoglycaemia bUI in ilddilion
tachycardic, and has a capillary refill time of
blood should be laken for insulin. C-peplide. growth
;; second&. She has developed &ome unu6ual honnone (GH), cortisol. 3-hrdroxybut),rale and free
movements over the la6t few hours. fallyacids.
Qt. What would your initial management be?

BOX 34.3 Differential diagnosis for acute
Q2. What is your initial differential diagnosis? encephalopathy due to an IEM
Q3. What investigations would be appropriate? • Hyperammonaemia: late-onset urea cycle
Q4. What fealures 01 this presentation should make disorders, orgamc acidaemias. liver failure
you suspect a potentiallnheflled metabolic • Fatly aCid oxidation defects: cause
disease? encephalopathy belore hypoglycaemia In older
Q5. What cooditlons cause hypoglycaemia? children
Q6. What Investigations should be performed • Late-onseVintennittent maple syrup urine
before children are fasted for diagnostic disease
purposes? • Porphyria
• Mitochondrial disease
en
-><
Tobie 34.2 First-line investigations in acute
Q1. What would your initial encophalopathy
T.., TO detect
management be?
nu~ inilial manab....rnent oflhu. girl should be as outlined
In Advanced I'.:,ediauic ufe Suppan (APLS, sec also Ch.
45), with a prinury sun'C}' addTCS:'>ing airway. hrealhing,
cirrul;nion. di~;thiliIY (Glasgow coma score, pupils. l.Ner fu'oClion teslS Rased Icansarnoases
posture) and exposure 'Ihese should then be ,lddrcssed Ketones;:md redo...ang subGlancos
before going on 10 complete.l sccOtlllilry SUI\·L]'. Ma}'<1 has CSF k"lC'!olo
~il-lll~ of respir.llOl)' dbtrcss allli shock ller aitw;>.y is ~t",ble
Hyporan rllOl1aomio
bllt she should be gwen f.'leial oxygen and;}ll intr.l\'cnollS
cannula should be inserted, with blood being laken
for initidl ill\,(::itigalions (including blood glucose)_
:)he will Ihen require a bolus of 0.9% saline and the
response should be assessed. II is also impart,ull to
com:ct hypog1YGl~miaand :,>l'lrt some inll"3\'t'nOIlS IOO,.{, 93
Results of investigations in Maya ;lTC: Ketotic hypogfycaemia
• W 72 nmol/l This is the colle,tiw term for tlw most frequently ~eell
• J'C0 1 1.0 kl'a cause of hypoglycaemiil. It is a poorly understood
• lleO l 16.2 mmol!l condition but seems to represent decreasing fasting
• Laltale 2.8 mmoljl toler:m,e in the young child. It is fn:quo.:ntly associato.:d
• NIl.' II fi limo]/I with babies who \"ere intrauterine gmwlh rdarded or
E • Na' 132 mmo!!1 small for dales. This diagnosis is made by exclusion
.!!1 • K- 3.8 mmoljl of olho.:r causes and children should never be fasted
o • Urea ('j.B 11111101/1 to make this diagnosis before other Ciluse~ have been
.c
n
tE •
•
CI
Glucose
mmoljl
2.2 mmot/I.
excluded. Treatment is by use of an emergency feeding
plan during episodes of illness ilml prevcntion
of prolonged fitsting, Lise of a glucose polymer is
rhere are a number of abnormalities in thew results
15 and this can sometimes cause some confusion. [his child
encouraged, and when vomiting is present. there
should be eilrly use of intravcnous 10% do.:.\truse with
~ has a rnet<lbulic acidosis. with decreased bicat"bonatc,
g miS'-'l:] ammonia and hypogIYG\cmia. 1\1 this slilge it is
helpful 10 calculate the "nion gap. as the pi [ is low
added electrolytes,
"oc
~
and you do nol know whether this is because the
bicarbonate butTer is salunlled due to reduced biGlf-
Medium-chain acyl-CoA dehydrogenase
deficiency (MCADD) and other disorders of
.c bonate with increased [ellal or gastrointestinal losses fatty acid oxidation
c (i,e. r{'llal tubular acidosis or gastrointestinal losses Thes..: arc usually prl-"CeJed by enccphalopathy, and
with di<trrhoeil). or whether other unrm:asUfeJ <lnions hypoglycaemiil is a lilte sign of decompensation. l'he
are contributing, Albumin is a major anion (bllffcr) most common disorder in this Woup is MCADD. It
bUl unllH',lsured anions, such (IS lactate, ketones (aceto- is possible to screen for tllis condition in tile llCOll<ltal
ilcdate, (i-hydroxyhutyr,ue). phosphate, sulphate or period by either cord blood analysis or blood collected
other organic acids. may contribute. 'I he anion gap to measure camitine and acyl-carnitine. Typical abnor-
can be calculated (IS follows: malities of urine orgJnic acids are also seen Jnd arc
more pronounced during times ofinterrurrent illness
Anion gap ::INa']-(IC1-I+IHC03 1l
or fasting. ,\1anagement is by emergency feeding
normally 10-15 mmol/l
plan, This is a condition with a vcry good outcollle if
:: 132-(92+ 16.2)
managed correctly, but a \'el)' poor OUlcome if missed
:: 23.8 mmolll
;n the presenting phase. Adolescents may present
In this case there was O1n increased anion gap and with Jcute encephalopathy after experimenting with
this WilS due to a previously undiagnosed organic alcohol.
acidaemia. MayJ.'s conditiOIl dC'compensated at this
time of metabolic stress when she had an intercurrent
Glycogen storage disorders
iI/ness and entered J CillJbolic state.
'Ihese can present al allY age but the mOSI cornman
form usually presents within a few months of life
Q4. What features of this presentation with severe hypoglycaemia, high serUlll Llet.ltC,
should make you suspect a potential urale and palpable liver. Milder variants may presenl
inherited metabolic disease? with hypoglycaemia only but hepatomegaly is fairly
llniv('l'saL
• Jnappropriatdy ill for history given
• tlnexplained acidosis with increased anion gJp
• Ilypoglyciternia Hyperinsulinism and hyperammonaemia
• Abnormal movements, which may point towards These arc rare llletdbolic causes of hypoglycaemia but
involvement of the basal ganglia that is frequently can be rreated easily. l11is is rhe re:lson for measuring
itssociated with IEMs, ammoni:l in rhildren during episodes ofhypoglycaernia.
It is due to a defect of the glutamate dchydrogcJlJse
enzyrne.
Q5. What conditions cause
hypoglycaemia?
Multi-organ failure
Although hypoglycaemia is frequently ,1ssociated with This causes hypoglycaemia and is associated with
ID.-I5, it is infnxjul..'ntly tile presenting sign. The following tyrosinacmia, galactosacmid Jlld mitochom'n'ra'1
94 conditions Illily prescllt with hypoglycaemia: disorders
Q6. What investigations should be Q1. What features in the history and
performed before children are fasted examination might suggest an
for diagnostic purposes? inherited metabolic disease?
• MctlsurcmCllt of glucose by laboralOry method TI1C history ofa period of normal development followed
d" glucoSf' meler:s .1I'e poor al recording by litter on~1 of neurodevelopmental rcw~SiOll or
hypoglycacmia slowingassociatcd with (,Kia! coarscningldY~lllorphi~m
• Cool.! clinical history and examination and skeletal abnormalitiCli should alen you 10 the fael
• A,yl-,arniline and Glrniline measurement lhi'lt this boy may hi'lve an inheritcd melabolic Jisca~.
• Semm l,letate and uric acid
• Urine for orgililic acid.. and amino acids
• I'rt'- and postpr:lIldial J-hydroxybutyrme tlnd free Q2. In what types of inherited metabolic
fatty acids. disease would you expect
dysmorphism to be present?
1\ fdsling It'SI is gellerally more useful 10 diagnose
t'ndocrine abnonnalilies. It should be dOlle by profe..· • ly';oMHnal slQr:.lge disorders
sionals who are cxpcricnct.,,<1 in performing il and ha\'e l-tucopolysacdlariJol>l..~
acct.-s:. to it ..peciali;r.£<.! labor:uory - Mucolipidosc:s
- 'iphingolipidoses
• Peroxisomal disorden.
Presentation of dysmorphism • Mitochondrial disorder!>
• Abnorm<llities of slerol melabolism.
and IEM
Problem-orientated topic: Q3. What metabolic studies would you
dysmorphism and progressive carry out to investigate this young
neurological disease (neurodevelopmental man's condition?
regression)
Often clinicians talk about doing a melabolic MTIXIl,
Laurie, a 4-year-old boy, presents with bm Ihis is nOI useful anI.! the inVt'l>ligalions thaI are
a history of global developmental delay performed llet.xl to be l':\refl1l1y chosen depending on
and aggressive challenging boehaviour. His Ihe most likely diagnosis based on Ihc dinic,)1 pi.llIrt'.
It is Ihus imponant 10 di:>cus:. the mosl appropn.lte
parents report that he had apparently
im'csligations wilh your locitllabor.ltory
normal development and behaviour up until
for Ihis child an iniliallisl of i1wcsligalions mighl
18 months of age, but they then became
include'
concerned that his developmental progre55 • Urine glycosaminogl}'C<llls: mueopolysaccharidoscs
slowed and he even lost 50me 6kllle that he • llrirw oligos;lcch<lrides: oligosaccharidoS<.~
previously had. His parent6 are double nrst • WI)' long chain fauy adds (VLCFA): lwroxis{)1l1al
cousins and they have one other normal child. disorders
On examination Laurie has 60ft dysmorphlc • MRI br,lin: dislinguish helween grey and white
features with mild coarsening of hie facial
features. He has chronic diarrhoea and has
been diagnosed with Perthes' disease of his
m;lller disease
• Skeletal survt.')': dysostosis muhiplex
• OphlhdlmolOb'Y review: c1ouding,leheny-red SPOI
• Ileclroretinogram: n>linopalhy
-><
Ul
left hip.
• Visual evoked potentials: brdin"l~m d}osfunCtion.
Q 1. What features in the history and examination
might suggest an inherited metabolic disease? Q4. What other features should you look
Q2. In what types of inherited metabolic diseases for on examination?
would you expect dysmorphlsm to be present?
• Eyes. corneal clouding, GWH,ICI
Q3. What metabolic studies would you carry oul to
Investigate this child's condition? • Skeletal deforrnily: gibhu .., kyphosis, macroccphdly
• F"J'I' recurrent otitis media, persistent Ila~al
Q4. What other features should you look for on
discharge
examination?
• Face: puffine~ of eydid.., coarS('ning of fealures,
broad nasal hridge and prominence of brow/tongue 95
• '!t:':lh: SIll;!l!, widely slMced l{"dh they <lre components of myelin sheaths. Abnormal
• Ahdomen umbilical/inguinal hernia and sphingolipids frequcntly d(cumulatc in the rt:ticulo-
hepa tospl enOl nc~a Iy. cndothdi;ll sy"telll 'I hey itre commonly diagnosed
dft~r an incidem,ll finding of an enlarged liver or
spleen. Lxamples ;lIe G,lUchcr'~ dbc.lse, rabry's di~a~
Peroxisomal disorders
and Niemann-Pick tYI)C A and II Others present with
E Although thert' ;m' many varied disord~ in mis group sewre d~'dopmenloll regression a Icucodystrophy
III
(eg Zellwegcrspecuumdisordcrs).lhey haw wry similar picture and chert)' red spot of retina.
.8 pr~IlLIl..iOlIS. including dysmorphism (dlaraneristic
tE facie<». psy.holllOlor rt1:Hdation, profound hypotonia!

weakness, intractable seizures. leucodYSlrophy (on MRI),
impainnCl1lS of vision .1Ild hearing ,md hepatOCt':lIul.lf
Mucolipidoses
111(:sc ha\'e a cOlllbin<ltiOll of f"dlllrt:'S of the mucopoly-
'0 up.funeuon I hey represent a SpE'drum of dise~c
S<lccharidose'i and 'iphinsolipidoses
III from an early onset sc\'ere disorder to milder older-
~
g Ollsct disc,IS<.'_
Lipidoses (e_g. Niemann-Pick type C)

"c
~
Lysosomal storage disorders
111e Iipidrn.es or lysosomal lipid storage discilSi.'S 3fe a
.8c Broadly speaking. this group of disorders prest:nls wilh
a number of )illlil.1T fe,lIure;, illthough they may vary
diwrsc woup of condiliom thai lead to accumulation
of the enzyme's SUbSlTale. Presentation is either as
slightly for ea("h individual group~ neonatal cbolestaSis. as splenomcg.lIy or with ataxia
• Severe hyperactivity and poor slC'Cping pattern and vcnic.llj;Xle palsy.
• S"c1Ct.ll ,lbnonn"litil..'S; gibbu:Io and kyphosis
• fkcurrenl hcrnias
• Gargoylism or dysmorphic dwarfism (skelelaJ
Mitochondrial respiratory chain disorders
dysplasid)
• Increasing Iwp:uosplenomegaly Mitochondrial disordcr~ {"dn also present in a wry non-
• Cingl\>.ll hypenrophy slJt---cihC manru'r afft:'Cling any orga-n in the body. 'Ihc
• DCRcncr.ltivc disease of Ihe cenlralllcr'.'Ous :Iol'stem classical c1imeal piCture is off;,ilurc to thrive, assoriall."I:!
• c.louding of IIw cornea \-..;th renal tubular leak or spt.'Cifk mnstdl<1lions thai give
• Changes in retinoll pigmentation raise to the namrs; e.g. MI:I..AS - myoclonic ",ilepsy,
laclic acidosis and stroke-like episodes, or MERRF -
Mucopolysaccharidoses myoclonic epilepsy and ragged red fibres.
Mllcopolysaccholridoses :He caused by a deficicncy of

lySOSOI11,11 ellzytllC:'> that degrade glycusarninoglycans,
with a variable degree of progressive mental and physi- Specific disorders
GIl delerioration, Ihe clinical fe"tures of these individual There are many Ib\'ls Ihal present ill childhood,
conditions vMy depcnding Ull the norrll(ll raIl" of most of which arc very rare. Only the more dilssical
1C11/,yrmllic :-Irlivity within each tissue. All are inherited disorders are di~{"usscd here.
in an aliiOSOm:i1 recessive manner. except Hunter's
syndrome, which is X-linked. More information about some othcrs (Box ~4.4)
is available on the ,\.1aslfCICourse website.
Oligosaccharidoses
BOX 34.4 Specific disorders discussed on the
The~e re«('mllle the mucopolysaccharidoses but are less MasterCourse website
common and the age of presentation tends to be earlier.
Main featurLos <lrc skcleL.1 dyspla:'>ia, dcvdopmel1lal • PropioniC, melhylmaJonic and isovaleric
acidaemias
dday, eoaN,' f"ci.ll features and progressive neuro-
logical deterioration, Lxamples arc fucosidosis, alpha- • Homocystinuna
mannosidosis and Si'llidmis. • Glutaric aCiduria type 1
• Urea cycle disorders
Sphingolipidoses • Glycogen storage disorders
• Porphynas
Sphingolipids arc present throul/.houl the body bUI
• Wilson's disease
96 arc p<l.rticularly import,tIlt in nervous tissue, where
Phenylketonuria AlIlhret" conditions presenl ;lnd are broadly managed
in similar ways.
Ihi.. I'> a disorder of amino acid met.lbolism where
deficiency of the phenylalanine hydroxylasc cllLyme Presentation
cause> d dcflCicllC)' of t~Tosinc and an increase in Children art' normal at binh but usually present in the
phE'n)~alalllne. Its incidence is l:lQ 000-20 000. Persist-
firM wt'ek with:
enllyelf\.''ilted levels of phenylalanine arc associatl'(j with • Acute encephalopathy
microceph.aly and mental retardation. Acule i':lf'\.uions • Marked melabolic acidosis' raised laCtate
all' 1101 signifK-a1ll dnd no special pm:.lulions aff' nerooo • Ilyper.lmmonaemia (organic acids inhibit urea
durin~ illness or surgery. cycle)
• Dehydration/shock
Presentation • Ilone marrow suppression: Ileutropenia,
I'resentalion IS nannal at birth and the condition thrombocylopenia
should be di,lp,noS<'d from scrcelling: • SWeal}' odollT (isovaleric acidaemia)
• Mc;mm.:J1l1'1ll of phenylalanine (rOIll blood • Neurological complications; mctabolic :.lrok,',
collected \\'I\hin the first 10 days of life is part of basal Aanglid illvolvemelll
UK screening programme. • CardiornyojJ:lthy (propionic acidaemi,,)
• C]lildl'Cll .lrrivi ng from Qt her parl~ ()f lhe world • 1':'lrlCrealitis
may nOl h:we been screened and may presem
TIl..::.c disorders :'Ire triggered by .;cpsi<;, fasling or
with developmental delay. cocma and
surgery.
microccplt'lly.
Diagnosis
Diagnosis
• Marked mctabolic acidosis with "etosi<;
• 111crc i~ an e1evatt::d level of phenylalanine but
• IIHwrammonaemi.l
de{Teased tyrosine_
• Urinary organic acid p.lttcrn is usual!) di,lgnostic
• Biopterin metabolism is normal.
and supported by acyl-carnitinE' profile
• Enzyllie "cth.·ity call be mea~ured frOIll liver
• Confirmalion by enzyme analysis on fibroblaslS.
tissue hut is hardly ever justified.
• ,\lutal1onal analysis is possible but expensive and
Management
is unlikcl)' to influence managemellt.
• Acute management is as described abovc. including
stopping protein fttds and using Im'o dcxtro~e 10
Management prevellt c,llabolism.
• Phcnylalaninc-rcsuicted diet • Correct dehydr:uion with intravenous fluids.
• SuppknH'1l1illion oflyrosine and olher • CorreCt acidosis with sodium bicarburl<lle.
essential amino acids with special protein • Remove dlllllloniil; may need dialysis.
subslitules • Remon: organic acids:
• MOllilOrillg blood levels and checkil1!!, for Crtmitine for propionic and mClhyllllillonk
nUlrition.11 deficiencies acid,IClni<\
• Avoidance of aspaname-coulaining fuuds
en
-
Glycine for i:,ovilleric acidaemia.
• PrcgllilllC)' CUllnscil ing for ildolescenls, as control • .\letronidazole reduccs gut bach::ri,ll produclion of
needs 10 be much tighter during pregnancy. propiollic .lcid (for propionic and Ilwlhylmalonic
Uncontrolled phenylalanine levels ill prt.,);lldllCY
<iTe associated with it high incidence offetal
acidaernia).
• Co-faClOr supplementation (biotin ror propionic
><
abnormalitIes acidacmia and vilamin Bl2 for lllclhyimilionic
acidilcmia); sollle variants may be due 10 co-faCtor
deficiE'ncy alone.
The organic acidurias • Long-term treatment im'olves low-protcin dit'!
The organic acidacmias arc a group of conditions with long-tcrm oral bicarbonate, caminne,
arising from defects in the breakdonn of amino acids mcuollldazole and co-fanor. if needed.
funher down thE' pathway from that seen in maple
syrup urine disease '!bey include:
Lactic acidosis
• I'ropiollic dCidaemia
• \1elhylmalonic acidaemia Lanic acid i<; produced by the anaerobic rt'spiralOry
• ISov.llcric acidaemia (rarer than the lWO above). pathways and can be raised in twO geller,ll siluations. 97
Table 34,3 Conditions in which raised lactate is seen
Condition Defect examples
Hypoxia Increased pyruvate proouction Poor perfusion, systemic disoaso, cardiac dlsoose
34 Impaired glucose production Increased pyruvate proouctoo Glycogen storage disease I, hereditary lructose inlolerance
Impairod NADH motabolism Mitochondrial disorders 01 ek:ctron transport chain
E Impaired pyruvate breakdown Pyruvate dehydrOQOl1ase dolidoncy py"/Vilte caflX!xylase

Ul deficiency. biotinLdase delidoncy
~a;
Impaired acetyl-GoA production Impaired pyruvate breakdown Fatly acid oXidation disorder~
Other Organic acidaemias
E
'0 I{y far Ihe moSI common of these (Iype A) is in SUites !...lCtate is formed from the reduction of pyruvdte,
l'! of (issue hypoxia that can arise from shock cardiac Therefore a raised J<lct<lte ran Ill: s,:en in the condil\on~
g
Q)
failure or other org,m failure or from Se\'\:'n:: disease, A
raised lartate is also seen in some metabolic conditions.
li~l.ed in Table 34.3,
C
~
.8c
98
Malcolm Levene Neela Shabde Martin Samuels
37 Child abuse and neglect:

the hospital perspective
Introduction 136
Role of the paediatrician 137
Importance of awareness of abuse 138
Children at risk of abuse 138
Legal aspects and rights of the child 139
Reporting of child protection concems 139
Critical threshold 140
Child protection register 141
Inter-agency working/working together 141
Confidentiality 142
Civil and criminal proceedings 142
Physical abuse 143
Child sexual abuse 147
.- •
• Know and understand the role and responsibilities of the paediatrician in
recognizing and managing abuse and neglect
• Know and understand the importance of awareness of abuse and neglect
U) • Know and understand which children and families are most of risk of abuse and
_ neglect
>< • Know and understand the legal aspects and the rights of the child
• Understand multi-agency working and confidentiality
• Know and understand the diagnosis of physical and child sexual abuse and
appreciate that a multi-agency approach is essential
• Know and understand the importance of discharging the child to a safe place.
IH(kr 10 he able 10 fulill this function. This chapter

Introduction de~mh..s the basis of child protection from the
I'rOleCling children frum illl~'llliolltit hMm is the role point of view of a trainee in paediatrics and Chapter
JIIlI dut)' of every paediatrtcian I here is a basic level 21 describe:> this frolll a primary C.He do<:tor s
136 of knowledge that all such doctors must possess in perspective.
Table 37.1 Types 01 iIIlreatment and examples from other human behaviour. Whibt thc mD:>1 ~evere
Form 01 abuse Example abuse rcsults from behaviour that is dearly abnormal
f'h)osiCai aoJSe F~. bums. cerebral WId abdorTWlaI (cigaretle burns, sadistic beatings, sexual abuse and
I~S physic.l! isolation), there is some bch.lViour \\here
lkll;...;ful sellUill int~ Wgger) the defUliuoll of abuse is dependent on the alhure in
partq:ral on n porn~ media which it ()('cuJ's. '1111" whole range of mallTeatment of
Demera., ng Cf1tlca and lJ"b,ong.::_=~~=.- children, therefore, is best considered pdU of d ~I)('arum
of behaviour ranging from thai 'Which is often pan of
"""""""'" ,-e.
Fat.xe to !tor 1lVs!Jed healhca'e 8f'd'Qf normal behaviour (the 'rdlex' sm.1Ck, frustrated agwessh-c
educa:iofla opportlSlll es shout or derog.ilOl')' remark; conscious 'discipliudl)1 ans
&'lIocatlOn, pOISo"19 ("laPp'apr d:e .1CceptOO in SOUle societies) through to very disturbed
I'1terterence.·, th 1codir19 tubt.'s and panern~ of behaviour that result in conscious s.ldistic
ntr(l'Je1'lOUS ~ .lClS by an aduh
Fabrica,ed loess Falsitylllg histories, 6llaggarating hal'ldcap.
(01.21) inleriemg wi'tl tests
Role of the paediatrician

111€ basic principles involw'd in child protection
Pal.:dialrici,lIlS arc 'WI expt::cled to de:tl with the
arc:
maltre:tl1nelll of children and young po.:opk 'llono.:;
• Rt'fOgnilion Oflht:: problem
their rolc is 10 recogllizo.: and report when <Ihllst: may be
• Reponing the doctors suspicions
occurring in lhe m,llly different clinical present.lIions
• 11Ivcstigdtioll and management of the problem.
and 10 assist St<HUlOI')' agencies in the illvc~tig.i1ion
Ih~ two chapters g1w an overview of child prOlec- of possible significant harm to a child 'nlis would
lion. but in Britain it is a requirement that all paooiatric induJc est'lblil'ohing the likelihood of non intemional
uainel'S undergo a formal child protl."<"tion t."(]ucat;onal injUry or organic dIsease ....ersus deliberate harm 10 the
programmt' for doctors, including a training day child. Such distinction is not oftcn easy or possihle, :l.~
dl'Veloped by the 1kr}-aI College of Paediatrics and Child some childrell wilh chronic diwil"t' ur di...lhl1;ty may
lIea.lth (RCPCII) in coniunction with the 1 ational also be subjected to child abuse and neglect; indeed,
Society for Prt.,,\-enlion of Cruehy to Children (f\;SI'CC) reSt'drch confirms th.lt they are at increased risk. 1111"
and the Advanced I ife Support Croup (AISC). 'R«og- paediatrician therefore must liai~ with thl.: Slatut0l')'
nition ,lOd Response in Child PrOlcction - an agencie~ for child prmection. It i~ lhe stallllol')' agen-
EduC.ltioll Programme for Doctor~ in Training' will be ci~, indlldlllg social services, the NSPCC .1Ild the
delivered hy AL<"C Ihese chapters are not intended as police, th.lt havc a legal responsibilily for protecling
a substitute for this training but givc an overview and childrcn and inw<;til::,Iting child proleClion concerns.
precis of m'lledal that is available on Ihis cour~e, Currenl government guidance and 1.1\\1 (Children Act
(hild ,lbul'oe can be defined under six categories. 1989) in the UK place~ profl.:ssional rl.:splll1<;ibililY 011
which arc nOt mutu.1JJy cxclusive and oftcn form d ht:alth profc~~ioll"ls 10 recogllize and rt'spond 10 child
5~)t.:clrUI11 of ,lhu~c (1:1hk 37.1). A crlild Mlfft:ring olle proleclion conct'rns :tnd work within :til inler ,lgency
form of abuse is often subjected to other forms as framC\\lork (colleagues), coopndtill);\ wilh stalutory
well
"",,111)' of Ihese forms of mallrealllWlll l)Te~cnt to
healthcare providers in either primary or secondary
care, usually in the form of apparently accidental injury
or gClluinc iIIne:». 111e health profcssioll<ll ha~ Ihe
agl.:llcies ill the be<;l inlcreSI of I he child. P:tedialficians
usually refer to socbl services in keeping with the local
procedures .lnd protocols.
11105 the key ta"ks of the paedidtrician are to:
• "lake a delailed history and perfoon a full physic.!1
-><
tn
opportunity 10 recognize th~ forms of mahreatmeOl, examination

and in SO doing. will haw to documem why maltreat- • Document the findings aecuml.::ly and legibly in
ment explains the child's condition. ·nlis may need lhe medical r«ords
funher ill\"eStig;l.Iion and the opinions of alher • Consider whether child protectiun COllCCfIlS
medic.ll Speci.lhies, e.g. in radiology, orthop,ledics or exist'
neurosUl'gcry. It is imponant to notc that a child with • Check the child's name against the Child
chronic illness or disabilily can also be ~ubiected to l:>roteetion Itcgisler (this will di:!>apIXdT in name
fabricated and induced illness so mcre is a need for with the new working logclher arrdngelllellls):
dWMClll..'S:> dnd recognition ofthi::; furm of 'lbu:.c. also, to check whelher the child is the subject of
Child ahlN' is commonly considered to result a child prOteCtion plan (held by the 10<<11 social
fmm ;t p;tltem of behaviour by an adult that is apan serviccs or Ihe NSPCq 137
• CommuniCilte with other professionals who have BOX 37.1 Examples of severe or life-threatening
seen the child
, child abuse
• (J nJertakc further mcJicill investigation or obtain
Direct
specialist opinion, where appropriate
• Decide on the likelihood of accidental versus non- • Asphyxia or suHocation
accidentdl injury, or organic versus non-organic • Non-accidental head injury
illness· • Poisoning and other induced illness. e.g.
• Report any child protection concerns to the septicaemia
statutoJy dgcncics for child protection, both • Abdominal injury
verbally and in writing • Spinal injury, including cervical spine
• Carefully and contemporaneously document what • Rib cage and long bone fractures
actions are being taken, including discussions with • Drowning
social services/police <lnd the pl<tn <lrising from • Burns
these
Indirect
• Explain illly ftndings and concerns to the pau:'ttts
(unless to do so would incre<lse the risk to the • Sexual abuse
child) Parents should be shown respect.· • Severe emotional abuse (through later deliberate
self-harm or other suicidal acts)
(. ·nlCSC ta~ks should be underLlkel1 in consultation
• Neglect, e.g. accidents. lack of supervision,
with Sl:'niorcolkilgucs, including thl:' named or designated severe untreated infections, malnutrition, severe
doctor or nurse for child protection.) anaemia (secondary to scratching from head lice)
111(' itl\Tstigation <ltld management of a case of
maltreatment of a child must be ilpproached in the
S,lme systematic and rigorous manner as would be • Social lUld reil/liN1SIJip dijJiwflie5, e.g. family
<lppropri;nc to the investig<ltion and manilgement of violence, promiscuity and proSlilLl1ioll, drug ilnd
any other pOlentiillly filtill disease (ilS suggested by Lord alcohol abuse, parenting difficulties.
Laming in the Victoria Climbie inquiry). When a child
Each year, substantial llull1bus of childrt:n suffer
is admilled to hospital, a clear ut.'dsion must always
long-term morbidity or death (50-100 C<lM"S per yt::dT)
be made <lnd documented ilS to which consultant is
as a result of maltreatment. In lilrge numoers of these
responsible for the child protection aspects of the
cases, earlier detection and intervention Gill avoid
child's care. The child must /101 be dischJrged from
lhe serious consequences of abuse. Some of the most
hospitill until child protection conct:[ns have been
serious abusive injuries, including those that are Iife-
resolved.
threatening. arc listed in Box 37.1.
Importance of awareness of Children at risk of abuse

abuse Following <lny childhood injmy, it is important to
in ca~es where professionills who deal with children consider the circumstances of the injut)' and to oblJin
know of or suspect abuse there is the opportunity a clear history of what is Jllcgecl to have happened.
for intervention, including either family support or If all explilnation is ilbsen!, inconsistent or otherwise
prolection of the child by remO\'al from home, but only ullsatisf<lClory, then the possibility of maltreatment
if this is reported to child protection agencies, Failure must be considered, The Sdme dpplies to illness that
to report concerns or knowledge of Ill<lltre<ltmcnt Ciln persistently defies exrlanat ion or is 110t consistent with
have substalltiallong-term consequences for the child, usual medic<ll experience. Child abuse/maltreatment
who may remain the victim of abuse, occurs in all social classes, JJowever. features that are
The long·tcrm effects of child abuse and neglect knowll to occur more frequently in families who <lbust:'
include: lheir children. in comparison to f.lmilies who do not.
• [lIlotiOllal ilrlrlll, e,g low self-esteem, depression, include:
unresolved anger and aggression, anorl:'xi<l, sdf- • Where the relationship between the parent and
harm and suicide child does not appeilr loving and caring
• PilrsiCtllll,nlll, e.g. brain injut)', Org,lll damage, • Where one or both parents have been abused
deformities, scars (e.g. burns) and handicap themselves as children
• Ldlicarimlll/ pro/.JICU1S, e.g, learning difficulties, f<liled • Parents who are young, single, unsupported or
138 schooling, employment difficulTies substitutive
• PMCllt~ with It'ami ng difficuh ies • Places child protection procedure::. within tile
• Parents who have a poor or unstable relationship remit of a 10Cdi Area Child ProteCtion Comminee
• Situations where there is dO/lH.'SLic violence. or (t\CI'C) - 10 be replaced by Local Safegu.uding
drug or .Ikohol dcpendcnce/misw!of' Children Hoards (LSCB; emphasis on :!Iafq,;u.,rding)
• I'drl'nlS who haw mental illness or perwnality - which dcscrilx'5 inler-<lgenry working,
disorders • Desaibcs processes 10 be followed when there arc
• Situ.ltiollS oll>ovcrty and deprivalioll, ahhough concerns about a child and actions to be taken
mOSI l)()Or famil it'S do not abuse their children. to safeguard and promote lhe welf.1Tf' of children
suffering, or ill risk of suffering. Significant hann.
Factors in the child tlMt arc associat...'<1 with vul-
• [Jrovides gUidance on child protection for
nerdbilil)' to ahust" and negloo include'
'looked after' children who ilrc in care of tile local
• I'rematunty and/or separation in the neonatal
i1uthorilY·
period
• Chronic illn('''~, \\ilh frcque1ll or prolonged '111e United :-"ations Conw::nlioll on Iho.: Righl~ of
hospitali7~llions the Child ( 1989) prtlVides <1n illl,-°rrUI ion.llly ~ccepled
• Physical or mental handicap sct of principles and standards to ensure that children
• roor IlldlcrlMI (llIilchrnenr everywhere without discrimin•.llion - h,l\'(' rlw
• Ikh,lVinlirill problems, e.g. soiling and wetting, rijl,ht 10 sUlviv.tl, tu develop to Ihe flllk.,t; to prolertion
challenging behaviour and hyperaclivily from humflll influences, abuse and exploitation, and
• Difri,ult tClllperamelll 10 participale fully in f,lmily, cullur.ll ,1I1d so<ial lift'
• ~creaming. ..-ying interminably and inconsolably The rights dpply to the practke of childrt'n's hl.'"hhc~re
• looked after children, i.e. those in llle Cdre of the for all children and young people lip to the .1RC of 18
locJ.l.luthority. years. All bm twO countries in the world (1IS,\ olr1(1
Somdlia) hJ..e latifieu the C:on..elllion
The abow may retlect both an incre.lSed suscep-
Arlicle l "r(wides thai any decision or .10ion
tibility to dnd a consequenCt: of mdltre.lllnent, but
dffeeling children eilher as individuals or a:!l a KTOUP
their procl1ct' d<x'S not me<ln <lhu'i(' has occurred
should be tJken wilh 'their best ill1o.:R'5( (I~ Illl' mmt
Children in all circumstances m.1Y be subiected to
importanl comidcT3tion.
abuse and ha\"t' a right to be protected from it.
Ankle') holds that children haw ,1 riF,ht not to be
separated from their pJrcnts or caeers unk..., il is judged
to be in the child's IX'51 interesl
Legal aspects and rights of Article 12 places an obligation on he.llth protcssioll.lb
the child to seek a child's opinion before taking (It-cisions tIm
affed. her or hi~ future,
Child protection in Britdin is guided by a legal frame-
!\nicle I') slates that legislative. ,ldministrdlivo.:,
work sct OUI in Ihe Children A('I (1')8')). I1l1'~ new
social and CdUC,llioll.l1 meilsures should hl' I,Ikel! 10
Children An (200..1) incorporates principles within
proll:ct children fmm all forms of physical or menlJl
the United Niltions ConvcllIion on the Rights uf
violence. injul)' or abme, negieci or negligenl trC<l!melll,
tht: Child <llld the European C:onwl1liol1 Oll Iltlman
maltreatment or exploitiltion, illdudillg S{'XII,II "hll<;e,
Hights childrt'll ,ITt' protected from abuse and neglect by
while ill the CtlrC of pllrcnt(s), legal guardian(s) or any
U)
-><
mUlti-agency working and by bolh voluntary and k>gal
other person who h"" the care of Ihe child.
illlcrvclltiOlI.llle new an alsoemphasi,w~lhe promotion
Article 37 st.ltes that no child shall be sllbjcCled 10
of childrt;>n·s welfare and their prolection from abuse
torture or other crud, inhuman or degrading lreatment
and neJ;lect, Ine Department ofl [eallh (1999) and IK'W
or punishment
h'orking Togdho.:r (2006) document, '\'\-'orking Together
10 5.1fl.-,£uard Children', incorpoT3tt'S all the legislation
and sets out principles fOf professionals working with
children. The main leaturl.-'S arc as follo\\--"5: Reporting of child protection
• TIlt' wdf;u{" of children is paramount
• (hildren must be listened to
concerns
• Children should h,!\'{' the righl to grow lip within An)' person who has know[edAe or a suspicion thai
Iheir families in an environment thai promotes a child is suffering significanl harm, or is at risk of
thelT he.1lth .lOd s.lfety. significdlll h,lTIll, ~hould refer that concern to one
• Look al the child and family ralher than Ihe injury or more of the agencies with St.ltutory duties and/or
• D....s('rilw$ role'\' and responsibilities of dIfferent powers to investigate and intefvClle. the social servin'"
agencies and practitioners departmcllt, the police or the 'l~I'CL All referrals 139
to Sl,l1l1tory ,Iuthorilies afe taken seriollsly (lnd
BOX 37.2 The child at risk of significant harm
considered WiTh an open mind. Professionals should
be .lblc to refer to child protection agencies in good The Children Act 1989 (together with Children Act
2004) introduced the concept of 'SIgnificant harm'
f,lith without fCM tIT,1I thi:-. will lead to uncoordimllcd
as the legal threshold for compulsory intervention in
and/or prt'lliature anion or any adverse consequences
child protection cases. Where social services have
to themselves
reasonable cause to suspect that 8 child is suffering
:g"
> At prl.:scnt, thcre b no mandatory requiremenl or is Iikety to suffer significant harm. they are under
for health,art' prnfe...~i()llals in The UK 10 repan a duty to Investigate the claIm. Furthermore, courts
suspICions of child malueatmCnl to the Sl.llUlory
"f!
0- agcncies. Ilow\.."'I'cr, there is d profosional duly to do
~o; th~ (,t'ner,ll \It'<lical COllncil (CMC) good medical
can only make a care or sUperviSIOfT order if they are
satlsfted that
• The ch Id is suffering, Of is likely to suffer,
"
0- practice guidelines stipulate Ihal patients mUSI be able SIgnificant harm. and
-'"
iii
'0.
o
to trust doctors with their lives and wellbeing. In the
praCllct' of pao!diatrics. this applit'S to infants, children
and young people up to age 18 years. Paediatricians
must nuke the carl' of their patient their first concern.
• The harm Of I kelihood of harm is attnbutable to a
lack of adequate parental care or control,
There are no absolute cnterl8 by which
signIficant harm can be judged: decisions take into
L:
-
Ql
L:
t
'Ill£' C\lC stipulatC':
If }'Oll bdl.'~'e /1 polfleml.. be fl
M'XlIdll1T
vit.rilll of neg/ar or phPICdl-
.'III",i0l1<l1 lIbuse 1"'.1 11"" Ihe p..Itiem emmol gill"
or u!jlhlUlM Cilrrsrnl fO dis.-ll'sllfe, l'llU "11m gil'!'! infomltllirm
conSIderatIon the effect of any ill treatment OfT the
child's overall physical and psychological health and
development The Children Act 1989 introduced the
concept of sign,flCant harm as the threshold that
"
lJl
prompl/" Ii}.m "P/'I,'pnflle lope,lS/hle pawn oJr SWIllLOty
llg,'nfr wher.' rOil l,t/itl'(' 1110/[ ,11(" I/isdosurr is in tile
justifies compulsory intervention in famIly hfe in the
best Inleresls of children, and gives local authorities
"c
'0
p<11iem's best Imeresl. If, for an,- re(lSOn, }'i'U be/lei'" IlIar
dix/Q.)[jTf' 01 inf(·nttdlioPI b IIQ[ III IIle be~1 inlffesl of (III
a duty to make enqUines to decide whether they
should take actiOfT to safeguard or promote the
a "bl/~e.1 ,'r nl'gll'ell'll p.llil'Pl/, }'I'.lll "'t/</ disnw lhl' WIles

1I'Itil 0111 exp.."Tli'PlLi.'ll WIl"'lgllt' If }'i1U flRcide nOllO disclose
welfare of a child who IS suffering or IS likely to suffer
signifICant harm.
"'"
D
:>
illlonllfliion, ,\'I'.lll mllSI bi.' prt>p.m.'(! fO jllS/ifr fOllr decisioll_
\'~11ilst :my health pTofe~iollal may Tepan COl1cerm,or

ctl BOX 37.3 The child in need
<;u<;piciom ofchild abuse to the statutoI)' child protection
31 agencies, lllorccommonly g~neral practitioner::., commu· A child should be taken to be in need if he/she
L:
() nit}' nursi ng st~rr .lllt! dodors in acdd~llI and emergency is unlikely to achieve or maintain, or to have
depanmems choose in the fiTS! place 10 refer sum the opportunity of achieving or maIntaIning, a
CJS<..'S to p,ledi"trici,llls (either community or hospital-
reasonable standard of health or development
b"seJ l)(lcdi"rridan~). III lhe~e cirCUmSI<lllCeS, it is Without the prOVision of services by a local authority,
or his/her health or development is likely to be
the consllltam I"aediatrician who will then decide
significantly impaired or further impaired without the
whelher or nOllO refer" child to til(' statutory agencj<-~. provision of such services, or he/she is disabled,
NCl,lcrtlwkss, Ihe CiviC recogni..:cs Ihat 'health care is
A child in need who is not receiving services may
incre,1singly provided by multi-disciplinal)' teams' and be at risk of significant harm.
if ""11 1!lIIIgrl'I' II'III! )'tlllr Iemll', (Iecisloll, )'011 may be able 10
pt'1"S/IIII/e ullw/' /elllll lIle/ll/)('I"S 10 dIlUl.~1: !lldr mmds. If nm.
mill 1"'11 IJe/i("I'i' Ih,lI IiiI' Ik.-isioll 1l'l'lIld Iwrm Ihl' plllif'IJI,
1",1I'(iIlIl"-'llI' u'll() filiI illite Ildilll!. If !III._"TI' lire dIfficulties
inveslig,lliom, 'Iubspecialty opinions) ,lnd some from
Vf diSlIX(j·j·m.'IlI) llUout if Imtlldll:ll w refer a duM. Ihen
information from olher profcs~i()nals or agencies
discussi'N! will! 'I ,1111'1(",1 (If !l1'$igll,'Ii"j !lOCUlf Of rwrse is Sometimes the criticl! informalion - for example, <I
./WIl.":!;' mlt'l:;ed. parent's !>:bt hi'ltory of abusing a child - is held by
(he S1<1I11101')' agency and f,lillln:: to share information
with that agency may delay protection of tht" child
The clinician must make a decision when to liaise or
Critical threshold refer 10 the statutory agencies. ll1is j~ u~uillly when till.'
Professionals need to be aware of the manifestations case ha~ re,lClled the 'critical threshold' (I~oxes 372
of lIldhreallllcnt ur ,lbu1>1:: to ensure children are and 37.3).
prolectt'd from harm Ilowe,~r, the detection of abuse t he 'critical Ihreshold' is the poillt where the
is somelimes far from simple and requires the building profe~iolldl's COnCCfll'l tlMt the child may be: be:ing
up of d jigs,lw oi information; some of tbe picrcs may harml-d cannOt be: :-..<uisfaaorily resolved Ccnainly in
1411 be from a llllxlic<l1 <I'lSessnU'1lI (history, examin';lIion, somE' ClseS it may full shon of clinical certainty or mn-
fimlation of diagnosis. The professional will be assiSltc"l1 Inter-agency workingl
by dbcu::.sion willi others. incllldillg a design;uoo
or nilmt'(1 doC1or or nurse. J'his cmical threshold is working together
the point when concr015 nE't'd to be referred to th£> Child prtJlt:nion mostly im'olws worl..ins; in panner-
S(.ltuIO/)' iluthoriti£>s for dlilJ prote{"\ioll. Sometimes ship with the family and "ilh professionals from
Ihi~ criticalthrt'shold may be immediately apparent,
other agencies. Wim regard to the fonner, there are
e g. an infant who has suffered a skull fractur£>
some essential Ilrinciples Ihat the c1inici.1n should be
ilnd intracranial haemorrhage without adequate aware of
C.Xpl:UMliull. In other circumstance", a combin;uion
• Tre.1t ,111 family members as yOIl \\,()llld wish to be
of h...lory ,lnd non-specific signs suggests that there
treated - wilh dignity and respect.
may be ,1 problem. If there is any doubt ..tbout whether • [nsure family members know thai the dlikl'!>
lO report, cOrlsuh:uion with a M'lllor colleague or 5.,fety and welfare musl be givl;'n fiNt priority
the n,lnled/designated doctor for child protection is • Be dcar with yourself and family members about
recommended. As a rule, if ill doubl ..tftel" ilpprupri;lte
lhe purpo<;e of your professional involvcmcnt.
disrmsion ill1(1 con~ult;ltion, il is helter for a report
• Listen to the concerns of the dlild and his or her
to Ill' made to social services so that an assessment of
r'\I11ily.
the child and family call be made, This may klcmify
• l!i:'speCl ronfiderlliality.
that the child either is 'al risk' of significant harm,
• 13e open and honest about your COlln'fI1~ ,md
or may "lIll he 'in need of services'. 130lh approaches
rcsrx)ll~ibil ilies.
should Jllow for the institution of ,lppropriiltc family
• Take care to distinguish between your profc~iOlMI
support ,md/or prutcnioll for the child and other
role .1Ild rcsponsibilitiL'S and your pd"onal
measure":ls considered .:lppropriale. fedings, v<llues, prejudices and Iwliefs,
It is not ,llw,I}"S po~ible 10 worl.. in pannerl:hlp with

Child protection register part'tllS. In theM' circumstances, the best you Gill do
is 10 keep Ihe p.ucntS informed \\hils! 1iai~il1g "'jth
l'his is soon to be replaced b}' a lisl of children who senior colleaio;ut."S and the stalut0f)' authoritIes. If Iher...
arc subject to a child protection plan. In earh area is an immediate danger to the child's life, the police
covered hy a sOC"ial M'rvices department, a cenlral should Dc C.:llted.
register is kept listing all the children in Ihe area ItHer·agenc:y working demand!> that agenrie.. and
who han.' becn abused or \\ho are (,ollsidered to be prof~sionab:
31 fisk of ahu'Ie and are therefore the subject of an • Share information
inteT-.:tgency plan to protect thelll. The r~ister i" • Colldborate and understand each other's po"llion
morc cOllcerned \..Jth the future prolection of the • \<\'ork in pannership with each other and children
child rather than past abuse. Children in the UK are :lnd their f.lrnilies 10 plan comprehell!>ivc <l11l!
placed on the Child Protection Register ill une of four coordinJteJ sClviccs
cJlq~orics, ncKleCI. physical abuse, scxlIdl abuse or • Recognil.c those most vulnerahle children and
('lIIolioll,11 ,lhtl~e. coordinate services from various apPl'OprLllc
I'tw decision for a child's name to be entered on agencies, including the \'ohmtary M'('tor
to the Child Prott..><:tion Register llSll<llly follows the
"haring of lllforrn;llion and discussion at a Child
Protection Conference, and where all inter-agency
agrt..oclilclII is made to work coopcratiwly with the
f,unily 10 prott'f"t the child Similarly. a Child PrOleetion
• \"'ork with dd\lh services, panicularly mental
health
• Panicipatc ill joint working to ""fegll'lfd children
and wlwn' necessary 10 help bring to iustice the
pe~1fators of crime against children
-><
Ul
C.onference is required normally to m.:tke the decision

to remo\'e a child's name from the Child Prott."Ction Allimsts should have a named doctor and .11lilmeU
Regisler. 'J1lt~ legi!>ter prO\'ides a celllrni pomt of speedy nurw for child prolection who tdl..C ,. prof(";Sional
enquiry for professional staff who arc worried about a ICdd within the trt...t on child protection matters.
child .md want 10 know ..... hether the child i!> alread~ Their responsibilities include education, support and
the "ullien of an inter-agency prott'<110n plan l'he supef\ision I:..1ch local area must have a designatl'd
Child PrOI(>(lion Register is maintained by social doctor and 11l1tW for child protection who \\'ork do~ly
services dcpanments and Gin be i!('("('Sscd by any with the named professionals in supportin~ activities
hcallh prof£"ssional who has concems "holll a child. It within tmsts
is imponantto nOlO' \"hether a child is the subject of a HcalLlI profes,~ionals are eXpedtxl10 \mrk III panner-
child protection plan. ship with l()('al authorities following government F,uidc- 141
lim.'::! identifying cleM rolc:. .IllJ responsibilities for pMellt and child as a single unit In lhis sima lion, it is
n)l111ll1... "i(1II~n.
,md provider> within the h~alth s~rvin~ the moral duly of Ihe doctor to aet in Ihe best interest
of the child.
Departmenl of Heallh be..t praclice guidance ("lay
Confidentiality 2001) st:ltes'
Issues around confidentiality oflen .1ppear to be more A llalSion lI!hl.'lhl'T 10 JudMf' ill{.:>nnarioPl nlll)' ilt"
i~
complicatt.>d in dlild protection tlMn in other areas,
InH it should always be recogni7eJ that the needs and
the welf,ue of the child Me paramount. Key issues
""r/lnllm I) tfiffi, 1111 if }'VII !lwI/.: II ma)' ,l.ml.I,I:C II", !11.lS1
~iII''t'Jl ,'VII and }tl!lr pmient or elknl. WIleTl'I'n" 1,,-,ssible-
)'i'1/ shl'u~1 e.Wlam lhe tm>loli"ln, .'l'.'k agr....ml'lIllllld t>xpldin
00 /hl' rea50/1S ,/ fOU deode 10 lId u,J:llilt:>f <I pamu (IT /ht> .-hi!d',
~
highlighted in rcrCIll guid,Hlce frolllthc RcrCH arc a"
IIgn¥ml'm
"c. follow<;
• 'nle doctor's primal)' dUly is to ael in the child's A sensible S<lfegllard, ocfore di~Jlellsing with parem,ll
~ be~t il1t('re"t. If then: i" (onniet between Ille doctor comelH, i... to seek advice ,lnd a fun her opinion from a
c. :lnd p,lrents or parent" ;U)J child, then the child's more experienced colleaguc,
00
o needs arc par,lmoun\. LOid L'ltllinRChaired a major inquiry following the
J: • \IVhcl1there are rea"ol1abk ground" 10 helieve a deilth of Victoria Climhie. Amongsl his wide-ranging
..."
J:
child is at risk of significant harm, the facts should
be reponed to social services in Englal1d, Wales
recommendations hc stolted th.H difflcullies ill ~eekillg
or I'..:fusal of parental permis."ioll Intlst not re"trict the
t ,lI1d Nonhcrn Ireland, wht>h'a\ in Srotland, the key
tesl for reponing 10 the ~eponer to the Children's
initial infonnalion gathering and sh;uing, e.g. between
health and social services, and lhb ..,lIould if necessary
"
Ol Panel is a perceived nccd for compulsory measures include talking 10 the child I It' \Iall.'d:
"c of supervi..,ion.
• I [('alth tmsts and their employees haw a statutory
Whl'lI II,e deliwm/f' h.1fI1I of (j .hlltl is Ifjmll{lt·,J ,IS Ii
pn."il1fjil~\ 11r.. rxamill;lIg lloe/or sllOllIeI rollSi,I.'r Wlrel/l/!'f
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duty to assist social serviccs departments making
enquiries under Ihe Children Act 1989
/(,11/1/,'( II h'510F)' diwcl1r from tilt' eluMls in ,Jl.lf chiM$ b,"f
iIllI!USIS. WIll'I/ thill is so. Ille 11l.>111T)' ~Il/Jllld Iw /lIb,?7I i'n71
"
00
~
• (onsenl 10 disclosure of relevant informalion
.1OOul the child and Olher bmily members as J.
when IIu' conSt"1l/ of 1M caTer 11,1$ /10f l""en ol'wi/ll'd, u'ilh lilt'
r"<!.>01I rllr rl,sptmslIIg U'I[/, fonsem re..ort[,,1 hr lilt> /,x<lmlning
~ R.... ult ofthc:.e enquire<; "hould normally be sought doC/or fnl1l<JSj' C,ISi'S ill u",idl E"X1ish is Illlt 11Ie jibt lal/glulge
from a competent child and carer, unless doing so of ,r.. chilrl concerned fll.. USI' OJ 'Ill imaprt"f1-"T sf,oul,1 Lot'
":<:
()
\\'ould place the child or a sibling at weatc:r risk or
hinder enquirie" hy IlI"ovoking int('rf~renre with
rcl~ilkfd.
v('mal ('vidence.
• ,"Icdical pr.lCtitioners should disclose information
,lbollt a non-wmpctcnt rhild ifthcy can justify
Civil and criminal
doing "0 a~ ('s~entiallO their pilticm's medic<ll proceedings
interest Disclosure \"ithollt consent may also
Sijo;llifkant harm to children gives ri~e to hoth child
tilkc place where failure to do..,u may place a
welfare concerns, dealt with in ci\'i1 proceedings by soci<ll
rhild <It ri"k of death or seriOltS harm, orwhere
services (local authorities), 'lild L,w enforcement issues.
the information would help prevent, deten or
dc"lt with in cri Illi nal proceedings. ·Ille police have a duty
prosecute a serious crime.
to cany out thorough and professional iJl\'\.'Sli~aLions inlO
• Where there is llncertaimY:ls to whelher there is
J.llcgations of crime and the obtaining of good evidence
J risk of death or serious harm and an apparently
is oftell ill tht: ht:.., illlE'Ti'Sl" of a child, as it may make
competent child or pan~nl rcfll~l'S l>crmission for
it 1('".. lik"ly that a child will h.we to ~ivc evidence in
disrlo~ure, tilt' doctor is obliged to <let when a ("hild
court. h also contributes to the devdoplllelH of a good
IS in danger.
c~'idellce base upon which to develop future support
• The doctor should document thoroughly all
and help for Ihe child and family
(IN"i~ions and the TCllsoning behinrl them and
Ile.llth professionals need to keep in mind th<ll
should always separate deMils of fact from those of
child protection work can lead tocnminal proceedin~.
speculalion ilnd opinion.
Ilowever, children should not be cxPOSt.--J 10 mullil)1e
Ihe doctor-parent-child relationship is founded intinlolte examinations simply to prm'lde evidence for
on mutual trust and respect, ,lS well as a common <lim COlin pmcttdings. runhennore, leading or suggestiw
to hendit Ihe child Where lhe child presents \\ith communication with children or other members of the
~ymploms or signs suggesting he or she has been a f'lI11ily should alway:s be avoided. 1unher alh-ice "holiid
142 subject of abuse, it rna}' no lonRcr be possible to regard be ...ought from t:ilher Iht: police or the IniSt legal team
when a doctor believes that criminal offences mOl}' have BOX 37.4 Common types of mjury that resutt
been committed. from physical abuse
• Bruising from blows
Key points • Fractures from grabbing limbs and direct blows
• Be aware of the range of prcscmatiom of child • Bites (distInguish between dog and human d8fllal
rna 11 reallllt':1It1abuse. pallerns)
• I:lke a detailed history and perform a full physical • Burns from being held In direcl contact WIth hot
examination. objects or scalds from fOfCed immersion
• DO(UI1lClll your findings accurately in the medical • Intra-oral injuries suggesting forcible insertion of
records; nOle whal WJS explained 10 the Pill'ClllS bottles or spoons
and what actions you are l<tking
• If Ihert' are child proteclion concerns, check the BOX 37.5 Features that should arouse susptcion
Child IJrOlection Register to see if the child i:o; the of phYSical abuse
subject of a child protenion plan.
• Discul>s your COllcems wilh senior colleagues or • Repealed injuries
Ihe named/designated doctor/nurse for child • No consistent explanation for how the InjUry
protection. occurred
• C.Qnl>ider the need 10 communicate \Y"ith other • Patterns of injury
health professionals who have seen the child. • EvaSive Of uncooperatille history from a parent Of
• Undertake further irwCl>tigal ion or oblain specialisT caregiller
opinion, where appropriate. • Inappropriate chIld response (e.g. 'didn't cry'.
• Explalll :'It"\}' concerns to the parents and wh,ll yOll 'felt no pain')
intend lO do a~ d resull. • Signs of other abuse (neglect, failure to thrive,
• Refer child proleclioll concerns to the Stalutory sexual abuse)
agencies for child protection. • The child's age too young 10 be consistent with
• Document any discussions, including rcft'rmls to the history of how injury occurred
social services and whal aClions will be taken • Unreasonable delay in presentation
• Do not discharge home until child protection • Parental aggression
concerns have been rt.'soln.>d.
• /\Iway... imolw d senior colleague. A consultant will • Shaking injury
1Ilum,ltely have responsibility for the patient. • Hlulll injury causing severe damage to brain or
:tbdominalorgans
Physical abuse • Suffocalion (may pre-will 'IS recurrent ;tpnoca or
-;uddel' unexplained de'lIh in infancy)
Althouj1,h serious CdSC> of physical ilbu~(' may be • Poisoning (see also eh. 21).
obvious. thl.' rilnge illld incidence of phyo;ic,11 ahuse
\mil'S depending on cullllrn.1 pr.ldiccs. In some countri..::s
Ilox 37.4 Ij~ts the I1lUI"t' f()lT1mon Iypes of injury
legislmion has been cst,lblish(.xl alo\ain~l ~11l<lcking. which that rt'suh from physical abuse.
is colJ~ider{'d abusive, bUl lhis is nOl the elSE' in Ihe UK
and 11 remains teg.1lto use reasonable forcc to discipline
a child. ,'-'lost peoplc would, however, agrer lhat any
force thaI causes an il,jury III a child, such ,lS bruising,
rcpresellls unaccept.lhle force. Rullying at school may
The doctor must be alcrt to the v<tried w,ly-; in which
physicli .llmst' may pre<;ent Important fcaturcs arc
listed in Hox 37.5. A thorouf;h medical CXdlllirMlion
(tOP-IO·toc surf'lee examiniltion), including as~smenl
of growtJl and developmenl, is essential in all Gt5es of
-
Ul
><
also be a cause of physical or emotional abuse and it is smpe<"l('d child abuSt".
CSlimated thai 450 000 children arc bullied at school
at leasl ol1ce per woxk.
II has b&"'n shown lhal 14% of dlildrcn in Ihe UK
Bruising
suffered the dfecl-; or M..... ~rc cffedS of physiral punish. There is no pathognoJllol1ic site of bruising thai indi
Inent, inrluding babies who :tre regularlysmackcd or hi\. cales dlild abll~c. It i~esSt"llljallo document the numocr,
Mothers hit their dlildren 1110[1.' oflen thall f,llho:rs, bUl di~lril)[[tion and pallern ofal! bruisingcdferully. lip 10
scvero: illjUly is moM nJlllilionly inllided by a m:m in :t hiM of :ill mobile children have al least one bruise
thl' hl1l1~d101d. and many have marl' thall one, although more lh.l1l
Abuse may be scvcre and result in the child's dealh. ten art.' su<;picious. An impon:tlll due 10 a potcllti,llly
r,ltal OUlcomc lIlily be Jue to: abusing family is if consent is nOl given to unclress and 143
~
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"~
a. •
"a.
0;
~
.0. Fig. 37.1 Bruising to cheek - adult hand slap in a female Fig. 37.3 Bruising to back as a result 0' belt marks in a
Ul aged 3 years male child aged 13 years
o (COlJrtesy of Dr C Hobbs) (Courtesy of Dr C Hobbs)
.J:
"
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"ffi
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~
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:!1
.J:
() Fig 37.2 Bite marks in a male aged 3 years Fig. 37.4 Torn frenulum in a male aged 3 months
(Courlesy 01 [K C Hobbs) (Courtesy 01 Dr C Hobbs)
examlt1(' tht" whole child. DCM.ribc how many bruises • Asphyxia

and illustrate distribution wilh ~ ~il1lplt: diagram on • Mongolian blue spots (p. 12~)
the budy eh.lrt. {Those on shins. bony prominences • Artd,lCts ~lIch J.S din. felt tip rn.ul,s or dye from
<111(1 forc1w<ld ;U,: ImJrt: likely to be accidenta1.) clothes.
Attempting to :lge hruises i~ unrdiahk lind should not
be JUlie, 1101 being based on good evidence. [s there a
eomisten! history for lhe Slle of the bruising? Fractures
Panicularly sllspicious bruising includes:
Fractures due to child abuse ,ue mOSl common in
• lillusual sites such as ears, cheeks (I ig. 37.1), eyes,
babies below the age of 2 years. In tile first 18 months
mouth, tnlnk. genitalia, upper or unexposed p,lns
85 0,t, of fracturE'S are due 10 abll<;(" and in pr..mohil£'
of limbs, buttocks and ni-~k
children «9 months) fractures should always be
• Unusual pdtlCmS suggcsti,·., of grip marks, biles
treJtL-tl as highly suspicious.
(I ig. H.ll. marks consistent ,,,ith,, Slick, belt
In all children owain fractures should lead to
(rig 37.3), bud..!.. or ~hoc
suspicion of abuse. These include:
• Injuries in the mouth (I ig. 17.4)
• Rib fractuR'S, which are highly specific for abuse
• 1\"0 blilrk eyes.
(fresh fractures m.ay be difficuh to recognize on
The differenti,lI diagnosis of excessive bruising X-ray) Cudiopulmonary reSUSCil.llion rarely
illrlUJL~: CtlU<;L'S rib fracture and docs not cau$C posterior rib
• COdglllillion disorders fractures
• I lenoch-Schonlein pllrpllr.l (p. 2(17) • Fractures in\'Olvinga long bone metaph~is (Ilg. 37.5).
144 • CuJldgcn di:sorders (rare) • Any fraciurc of fcmur or humerus in infants.
Fig_ 37.6 Bilateral linear parietal skull fractlKes in a gir1 of
Fig. 37.5 Femoral shaft fract....re in a girl of 6 months 6 months
(Coorlesy 01 Dr C Hobbs) (Courtesy of Dr C Hobbs)
• Multiple fraclure ~He~ child under the age of2 ye,lT~ \\lho is suspected of being
• A fr.lCture that occurs .1S the result of minor physicallyabuSE'd. Repealing Ihe ~ur"L'l (a chesl X-rilY
trilurnd, e.g. an infant falling offil wfa and films of other suspicious <He,l~) after 2 weeks may
• Lvidence offraetures of different ages on X.ray reveal previously undiagnosed fractures and can help
c.'(amination. in the daling of the Ollse! of the fr<lnllTc. C:ompUled
• An inildeqll,lll' or ,Ibsellt l'xpl<lnation for how the tomography (Cf) he<lcl scam 'lIld hone sems may
fraclUre OCClITr£d be indicated but require discussion with .1 senior
• Skull fr.1Clurcs, which do nOI occur without colleague.
considerilblc forre,ls lhccxpl<lnalion ilppropriale?
I'ilrticularly COllcernl ng are IhoSf involvi ng lhe
occipital bone, depressed fractures, wide (> 3 mm) Thermal injuries
fl'aClure~ and 11ll1l1il'lc fr,lClurt~~, partirul;lrly if
These occur commonly in childhood and often present
crossing a sUlLlr£ lm£ (Fig 37.6).
tn
-
to primal)' cafC dOrlOI'S. A rd.tli\ldy small number
• Spinal fraclures. Cervical fractures occasionally
arc due 10 child ahll.'w hill are known to be under-
ocrur \"'ilh I1Ull·;lccidcrl1al shaking injury.
DilTerential diagnoses for the cause of fractures
recogni7.t'd. Ihermal injuries include burns ,md scalds.
TI1cse include scalds (rom hOl walt'f, food or Sle<lrn
)(
include. Burtis m.l)' fullow etmlM1 fmm hot ml'l.,l obiros such as
• Accidenl an iron or ra(hator, cig..1reues, matches or namcs, friction
• Abuse from being dr,lggoo across a c(lT~t, and from electric-al
• Birth injury (e,g. d,wiclc. humerus) and chcmical ~ourccs.
• Ostrtlpfnia (rickel~) of premalurity (p. 376) In ev.llll,lling a bum lhe following fealmes axe.
• Osteogenesis imperfecl,l import.1nL
• Copper deficiency (very rare) • Inconsi~tcnl hi~lOr)' as 10 hnw the injury
• Structural variant, e.g aberrant cranial suture. occurred
• Dcnidl thai the injUl)' b ,I burn
Investigations • Repealed burns
A skeletal SlUVt'Y is mandalOry when Ihere is a fr<lClure • Sile or multiple ~lIes (I£sians on the f('et ,md backs
sUgge5lin' of abuSE' It is also recommended for any of hands arc commonly duc to dbu.sc) 145
Fig. 37.7 Contact burns from an iron in an 18-month old
girt)
(Courtesy of Dr C Hobbs)
• Shape:
- Is it consistent with the historyr
Are demarrnlion lines sugge~;(ive of a panirular
object (lig. 37.7)1
Cigarette burns cause dl..'Cp circular cratcrs Fig. 37.8 Cigarette burn in a 8-week-01d male
(Courtesy of Dr C Hobbs)
o 'i-I Cln in diameter, which scar (Hg_ 37.8)_
Accidental brushed contact causes superficial
iniury roughly circular but wilh a taiL SUggc;lS either shaking or impact iniUly or both. Shaking
Immersion scalds should be panicularlyevalualed injury rt'5ulting in rombinalionsofsubdural haemorrh.1gc.
for l.."videliCc of: brain injury and retinal haemorrhage is most comlllon at
• Tide mar"-~ indiClting Ihat limb or buttocks were around 3-6 months of aRe. Subdural haClllOrrh<lboe may
forcibly immersed (I'ig. 379) follow binh or 3ccidemal tl<l.uma. ~m.lll asymptomatic
• Abscllt splash marks sUAAcsli,'c of removal from bleeds may be <;een with imaging pcrfonned after hinh,
the hot WAter. but resolve within the first 4 wccksoflifc.
111c main clinical features of non-accidental head
TIle dirTerellti,ll di<lgllosis ofburtls includes:
inJuT)' (I\.AIII) include:
• Impetigo (p 110)
• Del,,)' iF! pn:sl:llfalion. c,g, child may be well with
• Nappy rash (Ch, 27)
enlarging hCild
• Staphylococcal scalded skill (p. 130)
• IIU.o'IlSlsrl"lt expltmm;oll: e,g, hislory of a minor fall,
• IHngworlll infe"ioll (p. 112)
severe injury
• Suddell coll{w~e in all ollu:rwise well child
Head injury
• Presellce of mlll'r 'IIl,/des (bnlises, skull, rib or long
l'hi1. furm of abll~e "mit's the highe:<il monality rates and is bone fractures)
panicularlycotnmon in infJ.IllS. Isolated sevcre head iniury • Ueti,lallwenwn'/Ulg/,s in one or both eyes.
A B
Fig. 37.9 Forced immersion scalds in male 18 months old

146 (A and B) (Courtesy of Dr C Hobbs)
'\I B. Ihe absence ofonc or mOfeofffaClur('S, bruises • Mental health problem:.. e.g. depression, eating
or rClinal haemorrhages does nOI £xdude abuse disorder
1\11 children suspt'C1ed of ha\'in/o; non-accidclllal or • Social dysfunction
olher head inJwy should haw a magnelic re\Onance • \-lay bffome a perpetralor.
(MR) or cr head SGlIl to confirm lhe presence of
subdural haemorrhage. M..eletal survey may fE".'eal othcr
bony injuries. An £xperienced ophthalmologi:.t should Problem·orientated topic:
be asked 10 cxamine tht: child's eyes as soon as po~ible a girl with blood-stained
Jfter ,ldll1bsion 10 look for retinal h<1cmorrhagcs. 'lhese underwear
are a. common feature after birth but USUJlly di,~appear
within d.1"S. They lIMy OCnlr after severe a.ccidental Jane 15:; years old and her preschool teacher
injury (e.g. car accident). ha5 noted I1lood staining on her knicker5
three times in the last month, Jane i5 an
aggressive child who frequently hit5 other
children in the nursery, She uses swear words.
Child sexual abuse
which the teacher thinks she can only have
Sexual abuse in children ""ill not be rccogni/ed if il heard at home, Her teacher is concerned but
is not considered by the clinician. A high index of does not want te up&et Jane's mother and
slispicion must exist and healthcare professionals mUSI notifies the health visiter, who in turn informs
acknowled/o;c that child sexual abuse may occur in any
the GP. The GP refers the case to h05pital.
f.unity. One study found lhat in the UK 12% of girls
;:md fI% of hoys have suffered sexual abuse ill some
Q 1. What should the paediatrician do?
time in Iheir childhood. Olher studies haw suggested
higher fi~un.:s. Bo}'~ are les~ likely to disclose abuse Q2. What investigations should be perlormed?
lhan girls. Ihe abuser is most commonly ,1 member Q3. How should the child and family be
of the household or an extended family mernber or managed?
friend, In the \'ast llu;ority of cases the child knows
the abust>r, who llIay be either a man or a woman,
Sexu,lI abuse of children by suangers is much less
common,
Q1. What should the paediatrician do?
Abusers usually groom and manipulate children
into silence o\'('f a period of time. A child who is abused TIlt"re art" very few signs Ihat are diagnostic of ..exual
by a dosc family member may adapt psychologically, abuSt' in lhemselves, lhe diagllo... i~ b usually made by
a proce'l.... that has boet-n termed 'the child sexual abuse piecinR together a iigsaw of infonnation from many
accommodation syndrome'. 'l1le compollellL~ of lhi~ sourn,:s. TIle major clues 10 diaAnosis arc as follow~.
comprise:
• Secrecy Disclosure
• 1'11lmpmcl1t and helplessness This i~ the most common w:ly in which scxu,d <lbllSt'
• Accommodation, in which the child takes is diagnosed. Children rMel,' fabrkale di.~do...ur{' of
en
-><
re:.ponsibility and feelings of guilt for the abusc sexual abuse and their ;J"OlIilI should always be taken
• Delayed llnconvincinK disclosure and Jolter seriously al1<1 investigated 'lhe child should be told tll.ll
retr.letion of disclosure. the dlsclOSLlrewil1 be passed on to social services and the
police. Ihe doctor to \\-horn th~' child discloses should
C:hild S("Xual abuse h.1S both shon- and long-term
not interrogate the child, a~ thts may compromi:.e the
effects Shon-term (childhood) dTects include:
subsequent legal process. -Ihe doctor mar. howewr,
• [motional. behavioural and psychosomatic
b't'mly queslion the child ill open and llon-ll::ading ways
disorder
to find out.- for example, what it IS that makes them sorc
• Diffirulucs fanning friendships and trusting
betWf'f'll their legs. If a child discloses in confidrl\ce he
rcl.llionships
or she muSt be lold tlMtlhe inforrnation will be passed
• Schnolunderachiewrnent and truancy or excellent
011 for his or her proteclion, :IS well as for the proK'Ctic)Il
school performancc and aucndann:
of other children, 'lhe doctor should hm'C 110 t,thic,,1
• Pl'cgnJ.ncy, sexually lr<lmrnitl('d infection (SII)
dilemma as to whetber lhi~ inform<ltion shollid be
• AblJ~ivc behaviour to\\'<lrds younger children.
disclosed, ,1,<, the GMC <lcknowledges that protection
I.ong term effects include: of lhe patient overrides the duty of confldellti.,lity to
• Sexual rdJ.Liollship diflicultiE-'S the patient 147
naughtiness, disobedience Of just :I non-specific
subtle change in the child's behadour Psychosomatic
symptoms are common and include ahdmnin.ll pains
and headache:.. Secondary wetting and soiling arc also
imponant ~)'mptollls.
Pregnancy
111i<; is dear evidence of sexual activity! It i~ obviously
imponant to distinguish between con....nsual inter-
course with a leen<lge boyfriend, which is not abllsivc,
and pregnancy resulting from an ahusiw exploitalive
relationship with <111 ulder adult. The issue of consenl
ill the laller SilUatlOn is one of whether Ihis can in
reality be meaningful .1nd given all <1/1 equitable basis
Fig. 37.10 Rngertip thigh bruises in sellUtlJ assault in
femtlle aged 9 yeul"S or whether the girl ha~ bet'll groomed and exploiledl
{Courtesy of Of C Hobbs) corrupted.
,"n.-er prorllls, Ul /.:f!i.'P a c1,illl's secret, e"pecially In Examination

IldZUllCi.' of k'lOlt'ill~ ldUlt it is. TIlO~re may be evidence of force during Ihe a~sauh, as
seen in physical iniuries such as bruising of the lower
Vaginal discharge or urinary symptoms abdomen, genit:ll area, thighs, buttocks, breasts and
These are non-specific sym!JIorns in prepubertal girls but grip m:lrk bmising around the knee; or on the upper
should arouse suspicion of st:XUal ;'tbuS('. Many girls who <urns. Examination of the genitalia may reveal either
ll,tvt: bttn ruhhed or fondled maydC\'e1op vulvovaginitis. supportive ordiagnoM ic lindi ngs ofabuse. For example,
bUI only a proportion of girls with vlllvov<lgil1iti~ h:we <I fresh tear of the hymen with frc~b bleeding or an
been sexU<ilJy .Ibll~ed. Vaginal di<>eh;lIl,'e in one case old healed uansaCliOI1 of the hymen :Ire hoth strong
conlrol study was found significantly more often lhan evidence of penelrating lr:luma. An anallaceralion or
In non-abused controls. The differenti,,1 diagnasis of scar is a diagnostic sign of anal penetration and renex
,,'ulvO\'dginilis is di~ls.sed in Volume 1 on page 331. anal dilatation is aile of a number of other findings
A vulval s\\lab and urine culture should be taken. supportive of anal abuse
Do not insert the swab illlo thl' vagina bUl take the
specimen from Ill(' labia. Q2, What investigations should be
performed?
Rectal or vaginal bleeding
VaJ;inal bll..-cJing ill a prepubertal rhild is usually due Ira \'ulval swab identifies a sexually Ir.Ill.'ill1itlHI infec-
to trauma and as such is strongly linked to sexu,11 110n (Sn). immediate referral to a child protection team
abuse DifferentialinJ; abuse from l1on-<IbLJ~ivc genital should be llIadc.llw inci(lence ofSTI in abused children
trauma. such.l~ d ~Ir<lddle injury, is not always simple. is dooul 5% ;md the most commollly CllCOLll1lered are
E\'t:~n Wilh a c1e:lr hi~lOry, repeated by lhe child, caulion gonorrhoea. genital or anal \Vart~ and chlamydi.1.
is required Injury to the hymen, pO.'itt:rior genital TricilOmlm1l5 tJ,'gin(llis infedion (usually asymptonlatic)
injury and bruising elsewhere should rai~ concerns in a child over 12 months suggcsls rc(elll 'l('xual contact
and prompt a thorough assessment .1nd referral 10 Olher infections that Gtll bc~cxtl<llly lr:msmitted include
social serYlces. Rectal bleeding may occur as the resuh genital herpes simplex. human immunodeficiency virus
of a fissure, r('Ctal 1'01)'1). inflammatory bowel disease (' IIV), ~yphilis and pubic Ike. Vcry often c1lildrt'1l with
or gasuoenleriti~ Ille presence of either of these S'I I show no sign of injury 10 the genilal or ;,"al areas,
symptoms in a prepubenal child without an obvious
unambiguous history demands rapid referral to a child
Q3, How should the child and family be
prolection learn (lig. 17.10).
managed?
Behawourald~turbance If a doctor has cvidence causing him or her to smpccl
Emotional and beh:wioural disturbance following child child ~ual abuse, lhis informalion I1HI~1 he passed
<;exll.11 abuse is common and may include self-harm. on to lhe social servkc~. Discussion wilh a named or
mutilation. d¥Srt~ion :lnd scxualii'txl behaviours. More designaled paedi,ltrici,m may be useful if further advice
oftcn. how('wr, the p;trenL~ describe non-specific symp- is n~qLlircd. "111t' pnmary caregh"Cr should be informed
148 IOllls including anxiety, inteffuptcd sk-cp, bad dreams. of the referral unless thefe is any concern that the
dbuscr liMy be wiHnoo and evidence may be deslroyed • Offer emCl'gellCY cOlltraceplion to po~tmenarch:tl
or pr~<;ure puc on the child 10 withdraw the disclosure girls prt'S~lI1illg wilhin 72 hours of a sexu,llly
or change the story. abusi\."t' event.
The doctor must keep careful ami ;lc"Curnu' can·
The main aim of management i~ 10 prf\."fl1l funhfr
temporiUH'ous note<; of [he imeiView, including who
abuse and pro\'ide suppan for the child and f,lmily as
said whal to whom and any examination findings.
necl'SSdry Referral 10 a therapeulic ~cf\'icc. e.g. Child
All p.ledi.lIricians should be famili,H with the Itoyal
and Adolcscenl i\\cmal Health. may be required.
College of Physicians (RCP) document, "he Physical
Signs of Sexual Abuse in Children'.
htlpJ/www.bma.org.uklap.nsf/ContenV
Once the social services ha\'e been informed, a child childprotection
protection investigation occurs. If the child is making
a disclosure or alleg.1tion of abuse. he or she is usually Bnhsh Modlcal AsSOCiatIOn: Doctors' Responsibilities
in Child Protection Cases, June 2004
interv;('v..'ed jointly by an expericnced social worker
and police offin'r ,md lhe inlerview is Videotaped as
t:videnct: for any laler coun hearing. httpJ/www.gmc-uk.orglguidance/good_
The child should be examined by <l p,ledhllrician medical practice/index. asp
tr<lincd ill cX'lInination and assessment of child sexual Goncral Medical CounCil: adVice on good medical
abuse either alone or jointly with an experienced police practico and confidentiality
surgeon "he key issue is whether the doctor has the
llL"(cssary skill". Remember that no physical evidence
may be found, even in cases with a dear allegation of
penetrative sexual abuse. The purpose uf this exami- Acknowledgments
nation is tu: We arc vcry gr,lIeful to Dr Chris Ilobbs for advice
• ,\c;ses..<; the nature of :my abuse about the manuscript and for allo\.,;ing us [0 use his
• ColleCt forensic e\;dence of sexual dbusc (e.g. illustrations.
semen or spcrnutozoa in the \lOlgina, r«!Um,
mOlllh or flsewhe-rt')
• Screen (or 51115 and pregnanc)' Further reading
• Pro"id..: rt:d~urance Ihal Ihere is no pf'nml.llenl
Hobbs Cl. ''''ynne 1M 2001 I'h}"~iG,] s;gn~of dlilJ .d)u~ a
()hysical damagt'
colour alias. 2nd I'dn. WR S.1unders. PhitIJdphiJ
• Arrange a treatment plan for idcntifiL-d medical. Repon of a workmg pany of the Royal College or I'h»l(ians
psychologic,ll and emotional probkrns 1997 I'hysical sil!Jls of sexual abu\(' in children RCP. I.o"oon
en
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149
Anthony Costello Therese Hesketh David Osrin Andrew Tomkins
as Child health in
developing countries
Introduction 150
Child international health 150
Neonatal health 156
Nutrition and malnutrition 158
Children in difficult circumstances 160
.-
• Know and understand definitions of key statistics
• Know and understand the UN Millennium Development Goals
• Be familiar with the major infectious illnesses of developing countries: malaria, HIV/
AIDS and tuberculosis
• Understand why neonatal mortality is so high in developing countries and methods
to reduce it
• Understand malnutrition: its dietary, social, environmental and disease causes;
diagnosis - clinical and biochemical; its impact on child health; prevention and
treatment
• Understand the concept and the global importance of children in difficult
circumstances.
Ul
-><
Introduction Child international health
A Ihird of global deaths occur in children under 5 years.
111is equ.ues 10 almost II million deaths per annum, of
which almost all (98%) take place in poor countries. a presentation on child public
Beneath the classification of cause of death lies a raft health
of influ('n("('~, in which poverty, gender, gowrnan("l',
macroeconomics imd malnutrition all playa part. l! You are invited to make a pree;entation on
rem.1ins.1 f,let thai, of the 4.4 billion people: living in child public health in your area of the UK
poor countries. 60% lack access to simitatioll, 33% at an international meeting. The audience
lack clean waler, 2o<'4! hayt' no heallhcdTt', and 20% do will include health profese;ionale; from a
150 nOI h.1\'e enough dietary energy and protein number of countries, with repree;entation
from Africa and South Asia. You feel that it Q1. Which child survival statistics will you
would be productive to set your di9CU99ion use in the introductory discussion?
in the context of global child health. and to
l\.lthough rough figures are available, we do nOt h'1\"C
highlight the areas in which your practice
acotrate data on the numbers and causes of dlild deaths
is similar to and diffen5 from that of your
in de\-eloping countries. particularly at the younger
international colleagues. You will have to deal end of the SGIIc. Ideally, statistics would ~ based on
with questions about common international vital registration - as they are in the UK - and dealh
child health concerns. certification would be used to monitor mortality patterns
and document leading causes of death Unfonunately.
Q1. Which child survival statistiCS will you use In the vilal regtstralion SYSlems are Ilot fully functional in
Introductory discussion? most poorcoulllrics, and we have to rely 011 ellher small
Q2. Against which international goals might you sentinel fI.:gbtratioll il1itiative> or sample SUlYe)'5. One
frame the discussion? well·l..nowl1 source of figures is the Demo)l,raphk and
Q3. What are the world's top three causes of child llealth SUf\.·ey (Ol IS), which colk'(ls infonn;\tioll on
mortality? a 1.1llge of family h~ucs from a n<ttional s,1mple and is
organi;tot-'d 10 be comparable between countries.
Q4. Can you name and summarize three
international child health programmes that The most common child ht:Jllh illdin'~ med 10
are relevant to both your practice in the UK compare different areas or progres'> owr time are the
and your colleagues' practice in developing ltmler-'; monalilY rate and lhe infant mortality rale.
countries? Althollgh child monality does have a t{.'('11 nieill meaning.
Q5. What are the immunization schedules likely to it is oflen us..:d as ~honhand for under-5 monality.
be in your colleagues' countries?
Definitions
Q6. What is your opinion of the WHO strategy
Definitions of terms are gi\'cn inlable 18 I and
for the Integrated Management of Childhood
Illness (IMCI) as a model for ambulatory Figurc 38.1.
paediatric clinics in the UK?
Q2. Against which international goals
might you frame the discussion?
Child survival is addressed in the Millennium Oc-.'dop-
mem Coals set by the UN. Although lhert: i., a specific
Table 38.1 Definitions

T.~ Definition Related term Definition
St~lbnttl' A fetus bom after 28 complete weeks S1ill~rth rale (SBR) Stillbirths per 1(X)J births. live and sliM
of gestation, who has died before
delivery
en
-><
£arty r1OOI1JtaI cloalh Death or a live-born Infant wrttlln Ear~ noonatal mortality Early neonatal drotM pc.- lOCO tr.e
7 complete days p::.stpartum rate (ENMR) births
La:e neonatal doo'h Dealh of a i,ve-born Inhm beh~eon Late neonatal morItllrty Late neooatal cl9alhs per 1000 We
8 and 28 compl"lTa days ~'pan.m r;;r.a (LNMR)
PCf'n<lWI death Sf, brrth or earl); neonotal deam Pennata mortaily rate (F'!'flR)
""''''
Still:W1hs Md oorty neonatal deat'lS per
HXXl b'rths. kve Md st.
I\"Ollatai oe31h Em,' or late noonataI dooth f\;eortilaI 'lU"..a: ly ra:e I\I~"~ £My and a's neonatal deillhs per
1000 ".OS bi1:hs
Post -nec:Y'a!aJ death Death o' a -:a-bom 1'I"'Il"Il b61'.Y98l'1 Post-naonaUi mortaMf Posl-neona:aJ doo1lS per tooo to'S
28 days aroo 12 oof'1p<lls r'lontrlS rata (F"lt-!M:)
poS".patlum ""''''
Neonatal or post -neona:o death 'I'ltant mortality raTe I MAl .,I.:rot deaths PElf 1000 r,",= trJls
""'"
lJo'lder-50eal" Death o' a liI.-e born ntanl wrttw1 l.JMer-5 'lU".aI<ty ra:e IUSfIR) lJnder-5 oaalhs per 1000 ":0 brtls
'; co!'l'lPGle \"l!ars pos:par!U:Tl
, ~'lIS <s a . . . ::<kfig dL'tlf"l crJ ••'Otw;:h ar::o:Jfd, ....,It' the Interralonel Stalistical C'assdlcalon 01 [)seases Q't11"lW1S1On llCIJ 91_ In oN..'W or dIE! IacI !hal
roe<o'.tom "ta IS at ~ gestations ncm rout,roelys.6Vlve" irOJslfla':lad COUllieS. -t>edaM 1lOIl TlilS bEolr<ovlSed n lCD-l0 to !<Ike n gestatons as (No'
as 22 C«'1PIete weeks 151
Goo ---+- 22 ....eeilS· geSlati:lrJ ~
~ The infant and child
• 1 days ~ 28 days
Ifr
----+
• "'C T'>""'C
12 morths ----+
"00
5 years
Early f\ec:mata Lalit neonatal
,~. ,~. CIIId death
Pennalaldealh
J Neona:al death
Infant dealh
FIQ. 38.1 Delinit,Ofls
Table 38.2 Mlliennium Development Goals

Goavtarget oeseription
ao."
Ta'lJ'l "
Eradicate ertreme poverty and hungeo-
Ha~. ~'{l(ln < 99O;wyj 2015 1'lEl proportion ol people ~."'losc income IS less ttlan L.lS $1 a day
Target 2 ~"""!l. 0I!"V.'!'IEI1 '990 and 2015 1'lEI p'OpOlt1Of1 of pllOP'e ...'leI wf'er ft'3'l1 hunger
Goal2 Achieve univenal primary educ::ation

o'gel3 ~nsve t"cl1.lJ~ 2015. Cf"ll(l"ef' e-.erywt e-e. bays and girIs.9 wi be ab'€l'o COIT\llele a U C(USEt ar prmary edocJoon
Goal 3 P1'omole gender equality and empower women
0<" Eim ',JI. ro:r- dispanl{ In pnmcvy alld ~ eoucallOrJ, preferably b'l2005 aid to <II >e'>'e!S ol educaloo no la'ar
man &'0
00al4 Reduce child mortality
TII'961 ~ RAd:JCfl by two-'t' '"CIs, b~:een 1990 and 2015, theln:l« 5 mort3hly [:lIO
Goal5 Improve maternal health

Tafget 6 Reduce by Uwee-QUaners, ber.-:een 1990 and 201 5. the matErnal mortaily ralo
ao."
T:w-get 7
Combat HIVIAIDS, malaria llnd other diseases
HilVe halted by 2015. and beglll to reverse. the spread ot HIV/AIDS
TilITI 81 8 H;we MITed by?Ol S. and begu'l to reverse. the incidence of rnalaria Md oC''''.:...C'"C''.:...'''dO'O'''C'C'''O''--- _
Goal 7 Ensure environmental sustainability
Target 9 InTegrate lhe principles of susta,MOO oovek>pment inTo country poI1CI~ and programmes arid rQlItlf5e the loss of
environml!fltClI resources
Target 10 11f1rve, hy 2015. the proportion of people without sustairtable access to s.:lfo drinking water
TArget 11 By?O?O. to hilve ilch~vOO II ~nlflGam improvement in tile lives of at Ioost100 milhon Slum dwellors
goal for il11proving child Mlrviv<ll, ,III the goals are Q4. Can you name and summarize three
inlim:\Idy linked \",ilh child he,llth (fable 38.2).
international child health programmes
that are relevant to both your practice
Q3. What are the world's top three causes in the UK and your colleagues'
of child mortality? practice in developing countries?
(;lllIMI C,Ill~('S of childhood dc,llh. in order of lllagni- Child health is affooed by improvements in cducJtion.
!lIde. are infrastructure, health sc",icc sySlcm~, s,mitatioll and
• Perill"'!JI .md llCQlldlal disorders Ilulriliolt. IlowL"'vcr, ,I numocr of programmes specifically
• Di,mhOt'al di",,'ase largel health Issues. .)orne of these programmes are
• Respiratory infeClion limited to one ty~ ofdisease (vellkal) and some attempt
• "1.d.HiJ 10 address d range of problt:ml> (imt>gr.lted).
• IIUIllAn il11ll1un(xkfi,iency viru5jacquiroo immune rhru- lIltemall0nal programmes that are directly
deficiency ~yndrome (IIIV/Aln~) relevant to developing countries are discussed below
152 • ."'Icaslcs (Box 38.1). These also have rd,-vdllce in Ihe UK.
BOX 38.1 International Child Heatth Programmes "leasles is responsible for about 10% of under-S
deaths - 800 000 deaths per y("ar - 85% of which
• Expanded Programme on ImmunizatIon (EPI) occur in Africa andt\sia. Epidemics.1re particularl}' SC\-ne
• Control of Diarrhoeal Disease (COD) in cruwded conditions such as urban slums. school..,
• Acute Respiratory Infection (ARI) hospitals and refugee camps. ,\.1ortdlity is redllCf'd if
\'itarnin A storl..'S are replete, if anlthiotics are given for
b!ich:ri<ll colTJplir,llions, if oral rehydralion thempy i~
Q5. What are the immunization schedules used for diarrhoea. ilnd if food illlakt: is increased for
likely to be in your colleagues' up to 2 monlhs after til<: illnes'i A measles eradication
countries? goal was sel in 1997. Unfonunately, the neces..~ary
co\'erage to achieve eradiriltion is o\'er ~O% and the
Expanded Programme on
current lewl is on awrage about 7()Ol). Eradication \"i11
Immunization (EPI)
therefore reqUirE" a series of national and loral catch.up
Ill(" IPI is the basis for all global immuniL.:lIion pro-
rounds of immuni.tatiOIl, as well as vel)' good rOUline
grammes (Tilble 38.3). with varying suppon from
inullunizatiOIl systenls
irllernational org'lIli"..ations depending on a counll'Y's
needs. World-wide coverage is roughly 80% o\'erall.
Control of Diarrhoeal Disease (COD)
but there Me wide variations, cSl)Ccially in rf'ceipt of
The discovel)' lhol oral water, 1':111 and sugar rcplelion
allllm:e Jiptlitwriajletanlls/perlUssis (OT!') doses.
(amI rehydration solution, ORS) W(lS a powerful tool
The carnpJign to eradicate polio began in 1988 and
for treating the dehydration call~t'd by diarrhoea led
has achieved over 99 % reduction in disease incidence
to thc inslilUlion"li/..alion of or.11 rehydration therapy
through a 'itfaU'sy based on
(OlfrJ and its indusion in the child survi\":ll inili.ui\'es
• Iligh routine infant immunialion
oflhe 19805. Idany healthcare facilities now haw ORJ
• Supplement"I)' doses 10 all childrm under::; years
areas, and outreach wor"er'i are romindy traincJ to
during national immuni7_1tion days
asst-:.s degrees of dehydration and manage di,mhoca
• ~uT\'eill:tnce for wild poliovirus lhroulo;h reporting
at home or rder .1pproprialcly.
Jnd testing of .11I cases of arllte flaccid p<lrnlysis in
children under 15 years
Acute Respiratory Infection (ARI)
• Lugeled mop up camp'1igns onct.: wilJ poliovirus
OUlreach workers Me also n:11lf<l1 10 effort~ to reduce
transmi~siol\ is focal.
the toll of lower re"pir,uory tract infection. Pncumonia
I'resentl)'. polio remains endemic in S('Vcn countries, is responsible for 20% of child do.:dlhs, abOUI 2 million
and six counlries have been Idbclled as sU'i('eptible .1Ilnually Current initiatives art' h:,~ed on the rdea
to reintroduction. /\nention has now shifted to the that.
endgam~, In order to be cenified polio-free. a country • Most falal pneumonias are b.lctcrial (partirul<lfly
must have had at least 3 years of no cases of wild polio, 'im'pIOt-OCClI5 prll!1I1110rlilll' and f flll""/nopIJI/us
demonstrale a capacity 10 detect. n':{xm and respond iIlJluelL::.<Ir!) .
10 imponed case~. and have contained laboratory • 'I illJd)' antiblOllc treatment reduccs case fatalily.
vims stocks, Likewise. sufficient ~IOC"S of vacrint: must • ~imp1e algorithl1l~ based Oil counting
exiSI hJ covt.:r jJotenlidl oUlbreak~ and routine immuni- r~~pir<l1ory f.-llt'" are semiti\"e and adequately
zalion programmes must be strong. Bcc... u~~ of lhe
proportionately glOwing incidence' of vaccine-derived
polio. nun}' countries arc switching from oral to
lIl]ectable polio vacan(".
specific to identify children who rt.:quire
antibiotics.
• Ilcahh wor"l'f'l can use Ihe .1Igomhms, select
"Ilpropriate treatment. administer antibiotics in
-
en
><
Table 38.3 Immunization programmes
Age Vaec:ines Where hepatitis B transmlsslon common Where hepatitis B transmission less
common
~rth BCG HB'

6wccks 01P1. OPVI HB2 HBI
W-. OTP2, 0PV2 HB2
,,~ OTP1, 0f'V3 HB3 HB3
91l~1ls Mee.*s }-l!Iow' 'eoiEw'"
'M'Ie<@'/f'1Ow1<W6o" 's a rsk
lflCG .. baaIIe ea.-".lI·I~-Gue....: Dn:> _ dipt thl'fl.l letar...s snd pe'1.JSSIS '.'aCCI'le CP'J. or31 Dt*l v3C0"lll. P-lEl = ~ 115 Ell 153
tIll' CO 111 III II Ility, roumelilarellts, follow children http://www.who.inVchild-adolescent-health/
up ;:Inc! rder in c;:lse of complic;:llions. The World integr.htm
I le;:lllh OrR,miz.uion (WIIO) algoritlull classifies a
rL'Spir,lIU1)' illl1cs~ <1'1 pncumonia if the respiratory IMel integratod approach to the management of
childhood illness
rate i'! greater than ';0 per rninLlte in a child older
th;:ln 3 months. l'his model is being introduced in
"C'"
,\ llumbL'r of (ouJ1lriL"ll but ha~ yet to be rolled alii
"~ Major infections
h'orld-wtde.
::> Malaria
o Q6. What is your opinion of the
o Around ')0% of Ihe I milhon ,mnual dealhs from
Cl WHO strategy for the malaria occur in sub-Saharan Africa, mostly in pregnant
c: Integrated Management of women and childrcn under 5. "tataria morbidity and
"0. monatil)' hiM' artllally increased over the lasl decade. In
o Childhood Illness (IMCI) as a
1"ll
model for ambulatory paediatric
clinics in the UK?
areas of low endemiol}' where immunity is not usually
acquired, malaria during pregnancy doubles or Iriples
the ri.sk of death. In arf'as of high endemicity, infection
c: .\ slrategy ddol>lt:d by the \\THO, l\.tCI grew out of lhe during pregnancy tends to exacerbate anaemia and is
knowledge that most childhood deaths occurred as associated \'\Iith 10\\ birth weight in infants. About
J:
'"~ a resull of five conditions: pneumonia. diarrhoea,
measles. malnutrition ilnd malaria. A sick child
500000 African children develop cerebral malaria
each year, of whom up to 20% die and about 7l?·h are
J: may be suffering from more than one condition. left wilh pcrm.Incllt neurological damage.
"ll individual srmptoms and signs can arise from a nit: 'Roll B.1ck Malaria' rnrnllaign, launched in 1998,
:c number of conditions, and lhere is an opponunity aims to halw the deaths from malaria by 2010. The key
o 10 integrale programmes such as CDD and ARI into iT1lerwmions for reducing malarial dedths are preventive
.1 more holistic package. 'Ihe IMCI slrategy has lhree - bed net::., particularly when treated with insecticides.
components; household in'leClicide spra)'ing - and therapculic
• Improving the skills ofheahh personnel in the - Ireatment with standard drugs, and particularly
prevention and treatment of childhood illness artemisinin derivative" fur resistam strains of l'IllSlJIooiwll
• Improving 11000.. ltli systcms to deliver quality care fa!ciparum Allhough tllseeticide-m".ltOO bed nets arc
• Improving r,unily and community praaices in effective, incre,lsing their usage has bL"Cn problemalic.
relation to child health I\t prescnt, Jess thlll1 a fifth of children in Africa sleep
The illtruductOly plhlse involves orientation of under a nel alld as few as 2% sleep under a net that has
country d('ci~ion-rnakers, creation of the neces.sary been impregnated with insecticide. 1\ growing lhre;11 is
rnan.1gement StruCture, ilnd extensive discussions with that of fCsistance in the f~ fakipmwn parasite, Chloroquine
minislries uf health. 1\ 11,1(iol1<11 ~trategy is dcvised. rDistanCt> is now the norm in much of Africa and
IMCI guiddilws (Ir(> ad"pted for local use, and activities resistance to sulfadoxine-pyrimcthatnine is increasing.
begin in a number of districts. These activities generally Combination therd])Y. including ,mcmisinin derivatives,
il1volve tr,\illill!,\ of I1Cillthr;lre workers, health system is likely 10 be Ihe bel>! Slrat'1,'Y, but there are serious cost
~trenglh('nit1g <lnd dialoglle with communities about
issues unless it ;s subsidized. Prcgnam WOl11el1 rail be
child hcalth problcms offered intermittcnt preventive lrt>aunent wilh at least
IWO doses of al1lirmllarial to redltce Ihe burden of
From a clinical point of view, hcahh workers arc
traincd to'lpproarh the<;ick child systematically: 10 check placental infeCtion and low birth weight.
initially for danger <;igns, assess the main symptoms.
assess nutrition ,1Ild immuni..:ation status and feeding
HIV/AIDS (see atso p. 277)
problell1.~, ,lIld c1wck for other problems l'his allows
clas<;ific.1Iion into one of tht'E'E' groups: children who About 2 million childrcil ,Ire mrrellll'lliving with IIIV,
need ur~tH lefen,ll dliklrclI who C,1Il he managed at 1.9 million of them in Africa About half a million
,m outjMtienl hc,lIlh facility and children who can be children die each }'e,lf from complications of HIV/
managed at home. 'I he firsl dose of treatment is given AIDS. Around 9()O;O of HIV infections in children are
on sitc and the ho.:,llth .....orker coun.sels the family on acquired perinatally. Aboul a third ofperinalally infected
.subSC411ClIl trC,ltl11Ct1l ,lIld follmv.up. This systematic children do not reach 1 rear of age, and over half die
approach improws the quality of care, provider morale before the age of 2. Progrc::.sioll b generally more rapid
and client S-ltisfaetion. It also le.Ids to more r.llional in dlildren than in adultS. l~ecurrell1 bacterial infections
154 drug usc.. are common, IIIV viral loads lend to be higher and
opponuni"li, inft'<1ion" tend 10 be more aggressive. • EncoliraKelllenl of rrlolhers wilh All):> or low CD4
I 11\'/AmS is cutting a sw.tlhe through the developing count:o. to rt'ptacemE'nt-feed
world, dccimatillF, the population of workillg age • Support for replacement fecdillK- if il is chusen
- including hcahhcarc worke~ and schoolteachers
- and le;l\'mg .1 grO\\;ng pool of orphans in the care
Tuberculosis (S\."'C also p. 2&4)
of owrstretched communities and the elderly. Current
initiatives include it drive IOw.uds having one agret'd Somrone in IhE' .....o rld i5 infected wilh c\1}'I.00iJllfflUIrI
rMtional III"jAID:-' action framework. one national 1IIb..'rCli/rui5 every second, somco nE' dies from til hE'rOllosis
AIDS authorily ant:! one country-!L"\·d monitoring C\'Cry 15 scconds,md a third ofall deaths are in children.
S\'Slclll. The WIIO declared tuberculosis a global cl11e'b~ncy in
Volunl.uy counselling and 1t'Sling (Vcr) aets as 199). Around 3.6 million cases ,He notified annually
,lIl entr}' poinl for HIV ple\"Cntiol1 amI Cdre, and is but the lrue prcv<tlf>nce may reach 10 million.
partirulMly illll")(}nant so thai wOlnen GIn he offered Tubt'rculmis is difficult to diagnose ill rhiIJrt.'n;
lre,UlIlCIlt to prevent perinatal mOlher-to-child trans- s}'mptoms and signs arc Ie!>.') specifir, ~plllllln samples
mission (p~trcq. Untrealed, the trtlnsmi~ion rate of are hard to g~L and tubt.'rollin lest rE'sponsiveness is
\-ITV-l i:. about 35%, About half of lhi~ i" explained by diminished with malnutrition and \-IIV/AIDS. Induced
bre<l~lfeeding, ,mother tranche by perinatal transmission sputum may be useful 'illd rapid Trell allligt'n leSI<; <Ire
and a smaller proportion by transmission in utero. Risk under lridt. Bee varci rk is of variable ulilit}'. J1reduces
f,lClor.. fur PMTcr inc1urJe new illferliOll in mnthen;, high lhe incidence of meningeal and milioll'}' luberrulo~i~
pla~rt1,1 viral IO:ld<;, advanced disease, breast problems by about 7:;% in infanls alld chiltlren and probably
and prolonged brcastfeeding. It is also possible Ihal protecl5 ,Igaimt M. le/1rt1c, but dOE"s not reduce lhe
exclusive breastf..:eding post'~ less of a n:-.k lhan mixed populallon prp\'alence of infeClion
fceding wilh brea~t milk and Dlher liquids or solids rhe current aim is therefore to Irc<tl infcncd pt'oplE'
I here are four imponant ways 10 prevent l\;ITCT. through case-finding and treatrnCnI, which will in turn
The first is 10 prC"'E'1l1 iI woman from cvcr acquiring the protect children from exposure. The \\1110 slralegy
virus, Ihrough :.t:lf·dt>:lermination and s,1fe sex In thE' relies on diagnosis via sputum sillear Illicro~copy and
event of infection, M rei can be reduced b)' operativc shon course din.'Ctly obst'r.ro therapy (DUIS) with a
deli..·cry, by proph}'laetir antirctr()':iral therapy, and by standardi.tKd rq;imen. In a typICal casc. themp... would
chang~ ill hrea~lfttding pranice. In places where a last for 6 months 2 months ofa daily four-drug rt"gimen
wom,lIl reCeives zidon.ldine from 28 wccks' Reslation followed by 4 rnotllhs of a lhrice-weekly lwo-drug
onward, bOlh mal her and baby recciw one dOM: of oral regimen Pl"t'St'ntl}'. about 3ffi'O of pt-"'Ople di,l~no<;('(\
ncvirapinc ami breastfttding is a.....oided, tr.lIlsmission w-nh I1Iberculosis l\."Ceivc DOTS managclllt'ltI,
rales are .1<; low as l°,u. ·1\\'0 m.lior concerns for tuberrulo'iis COlllrol are
Llreaslfeeding is the most controversial cunclll i~su~. HIV/AIDS and the dt'\'dopmE'nl of mllitidru~ resistanl
AllituJ...~ \ldl)' ~il1Ce, all the one hand, hrea<;tfecding lubernllosi<; ("'.IDR-Ill). Developmenl of <!Cli\le luber-
may lead 10 around 100 000 I IIV infections each year. culosis is anylhinj.; from six to 100 times marl" likely in
and on the other h,md, breastfc(.'dil1K may plcvelll up lhe prL':'>Cllce of 11iV infeclion In sub-Saharan Africa,
to 1.5 million child dealhs ('deh yt:.tr The best analyses 70% of people with AIDS develop luherrlllosi .., and
slIggc<;t thalth\? risk of transmission increases b)' aboul - collversely - pl'Ogressioll uf IIiV/AJI)S .lrrplerales in
4% for every 6 monlhs of breaslfecdillg.
Strategies to reduce PMTCT of HIV through

breastfeeding in poor settings
• Exclusive bredstfccding during llle fir"t
lhe pre:o.ertce of lllh..rrulosi<;. IllVjAlLJS also modifies the
clinical picture of IUbercui osis (the 'new lubefclIlmis').
bi:lrapulmonary disea~e is more COllllllon, <;plllltm
smear microscopy ,1Ild luberculin ICSIS are more oflen
negalive, and chesl X-rays often atypicl!. Although
-><
Ul
6 months Irt>illmelll regimens arc similar, case falalil)' ralt'S are

• Shortening the dur,nion ofbrcastfccding to about higher, and drug interaClions and adverse effects
6 months arc mort' common "Ihe rise of MDR-TB hdS bo..'Cll
• Good lanation management to avoid problems mapped 10 J number at global hOI SpolS in whICh liS
such as cracked nipples, engorgement tlnd prevalence is O\~r 3%, although in '>Orne areas it rcaches
ma~tilis 30%, "tandardi7.•ltion of treaunCIl1 is recolllmended in
• If a lIlolhn d{·.....e lops maSlitis or abscesses, frequent order to:
expression of milk from the affected side (Ihe • Reduce the exposure of 0\1 llllH"rCil/(l.5I.' to a wide
mother should discard this milk, continuing range of <1m!}"
fo..",,'ding from the unaffected side) • I-nsure drugs are used in combination and nOI ~inl:;l}'
• lI<;e of condoms throughout Ihe l,lCt,llion period • Oplimize cure ratcs. 155
exens a more indirt'C1. dfro in pregnanc)' by increasing
Neonatal health
Ihe risk oflcw. binh weight and stillbirth.
Asphyxia refers to an impairmenl of exchange of
respiratory gase. {oxyg.::n and carbon dioxide). leading
neonatal health and care outside to neurological impairment in the newborn infant.
the UK Most commonly olsphyxia result~ from a delayed or
obstructeJ l<lbour, or (rom failure of a birlh attendant
You are representing your department at an to resuscitale or assist breathi nj:; adequately after birth.
international meeting on newborn health and rhe best war of assessing the severity of binh asphyxia
care at the WHO in Geneva. Before at"tending in a newboTl1 infant is 10 use a clinical scoring method
the meeting. you are keen to find out more to grnde the severil)' of neonatal enceph.llop,ltlly (grade
about the problems of neonatal health 1. mild; grade 2. modn'alc, and grade 1, sevt're). Ihere
outside the UK. have been few studies on Iht' epidemiology of asphyxia
and encephalopalhy in lhe d('\'cloping \\orlJ, but
Ql. What IS the burden of neonatal disease in the thest>: show fresh stillbinh rates afe 10-20 linH:"s higher
developing world? than in rich coulltrie.~, that encephalopalhy r:ue$ arc
Q2. What are the major causes of global newborn 2-3 times higher, and Ih;'lt survival of moJerately or
mortality? severely encephalopath Ie inf'l1u~ is poor.
Prematurity. nuher than growth relardation. is
Q3. What are the causes and consequences of
being bom with a low birth we'ght? What risks probably Ihe biggest risk 10 a newborn inf<lnl. Being
does a low bIrth weight present to an infant? born I or 2 months before the Jue date hugely incrt>:,l5eS
the risk of nL'wbom death in communi lies where
Qa What are the essential principles of newborn
special nur..ing care for low·binh weight babies is nol
cafe worldwide?
available AnOlher indirect cause of neon,llal dell! hs is
Qs. How might neonatal mortality be reduced In hypothennia, which occurs throughout lhe world and
settings where resources are extremely limited
ill all dil1l<ltl"~, and is due to 1.lck of kno\'Jledgc ralhcr
and there is no access to neonatal units in
th<ll1 lack of equipment. Less than 5% dit.: from other
hospitals? What Is meant by 'levels of care'?
causes such as jaundicc ,llId hiICtllolytic dise;'lse of the
newborn. It is important to appreciate that a death
may result from multiple causes, and lhe assigntllent
Q1. What is the burden of neonatal of cause of death in Ihe neonatal period is extremely
difficult.
disease in the developing world?
Direci causes of stillbirths include hypoxia during
Of the UO million hahit"S horn E:"Very rear, about 4 labour, asphyxi.l during delivery, infections such as
million die in tht>: firsl 4 \\'eeks of life: lhe nconalal ] 11V, maid ria, 1ll<1lcrnal syphilis and chorioamnionitis,
penod. A similar num!JCI of babies art: ~Iillborn, i.e. ,Illd congenttal ;'Illomalies.
thL')' dil: ill tht.: laSI 4 IllOlllh~ of pregnancy. About half
a million mothers <lIsa die from the complicJtions of
pregn.1ncr ,1Ild childbirth, Almost <III l11:11ernal and Q3, What are the causes and
lleun,lt,llllc,uhs (99%) occur in lo\\'- or middle-income
consequences of being born with a
coumries "llher lhan Ihe wealthy industriali.lCd world,
low birth weight? What risks does a
and about hall occur al home. 'nuee-qudrtcrs ofrlcaths
low birth weight present to an infant?
occur in th..: first week. and Ihe highesl risk is on the
firsl day afu.'r binh. AmonKSt the indifect causes of neonatal and perinalal
death low birlh weight. a weight of less than Li kg
at birth, is the most importdlll. Callst·s of low binh
Q2, What are the major causes of global
wciKht arc complex and often stem from the effects
newborn mortality?
of rowny ill past gt>:neratiOlls. An impOrL.ltll (arlor
Clobally the three main causes of dcath are estimaled is the he<llth and nutrition uf the moth!'r and other
to be prCICrt11 birth (2H%), S('\'cre infeclion'l (26%) and risk faClo~ inrlude untrealed maternal infeclions.
asphyxi" (21 0 o). I\.t':Onal,ll U~l.lnus accounts for ,1 much demanding Ilhrsical work. Ihe use of smoking, alcohol
smaller proponion of de.lths but is casily preventahle and drugs. and shon inler-pregnancy interv'lls.
throogh maternal \<lcciu<llion. Olher infeclions include low birth weight increases lhe risk ofneonatal death
newborn SClllica.::mia resuhing from an unhygienic and also the risk of comphcatlons later in pregnanc)'.
156 delivt>:ry or poor cord c.ue. and pncumonia. Malaria More recently, researchers have identilio:d a link
between fetal and infiHlI growth and the risk ofdiseases
BOX 38.3 Interventions to reduce neonatal
in ,1Jult life '!ouch as hypenen!>inn, i<;('haemic hean mortality
diM'asf' and diabeH's Programming of fetal physiology
such .1" conisol secretion in response to :.trc:ss, insulin During pregnancy
resistance ,md vascular respon..ivcn..·s:. are thought to • Tetanus tOXOid
be 'mille oftht' underlying mechamsms • Iron and folate supplementation
• InsectICide-treated bed nets and intermittent
treatment for malaria
Q5. How might neonatal mortality be
• Dietary supplements
reduced in settings where resources
• Birth preparedness
are extremely limited and there is no
• Screening for sexually transmitted infections
access to neonatal units in hospitals? (5Tls) and HIV
What is meant by 'levels of care'? • Anliretroviral treatment to prevent mother-to-
It is uflt'n believed. mistakenly. that ~ood newborn child transmission (MTCT) of HIV
care requires sped'lJist units, high h.:dlllology lind During childbirth
expensive I'l.::.ourn:s. In facl lhe principles of essential • A companion
new horn rarc were laid down by Pierre Budin. a Freuch • A skilled attendant
obstetrician, in 1905 (Box 38.2). These principles can • Caesarean for obstructed labour
be implemenled by mOlhers or heallh workers in the
• Safe delivery kits
horne or health centre, without access to expensive
technology. • Tube and mask resuscitation using oir not oxygen
rhe top priority b to mainlain an airw,ly through • Neviraplne to reduce MTCT
c1car.lnce of 'It'Cretions or by laying the baby on his During the newborn period
or her side or in a prone position. Gellllt.: stimulalion • Drying and wrappmg; skin-to-skin 'kangaroo
of the baby may initiate breathing if there is apnoea_ care'; avoidance of eany baths
Some progr.unme.. have shown that primary care • Early bf'eastfeeding and colostrum
work('rs or ('Ven traditional birth attendants ran be • Clean cord care
trained to conduct resuscitalion of an apnMic infant • Antibiotics for infants With signs of sePSIS
using a tuOt' and mask or a bag and mask. • Avoid separation from mother
l'he most effecti"-c and reliable way to maintain
body tClllperdturc and prcwnt hyp()(hermia is to
nur~ lhe baby. :.ldIHo-skin, on Ihe mother's chesl the water :.upplies are lIns,lfe and illiteracy hiRh. !=ailure 10
warml'''' p,ln of her body 11lis has the added ddvanlagc ItlTive, l}.slroenteritis and death drt.: m.trknlly illcreased
of improving the ch;lllce of early Im·a"lfceding Skin- in non-breastfcd illfant~.
lo-skin nursing Ita... been shown 10 be more effcCliw Hygicm:: is a critical e1emenl in reducinx perin<ltal
than inrllh:ltor management in mainlaining a steady sepsi.. for both mothers and infant:.. ,\ c1e'l1l ~llrface
body tcmper,ltllrc, except in silll,lliulis where the baby for delivery, hdnd-w<lshing by hirth attendants Jnd
i:. sick or lHlslable. cle'iIl ctilling of the cord will prevent ;'I I,lrJ.;c number
Ixclusive breastfecding provides all Jlulrilional of unnecessary deaths, A reccnl clu:.lt:r r'llldomi7..ed
en
needs, protects <I/<;<linst infcction, OOo:.t:; pa~sive immu-
nity lhruugh imtllunoglubulins in colostrum. promotes
theml"l care and bonding with the mother, and
guarantees c.xcdlent growth in infancy. I'lcrc are serious
colllrolJcd trial oflraining n<lditional birth attendants
in l"akistlln showed a reduction in perillat,ll mortality
and a large diminution in perinal,ll.\CIlSis.
The problem in ladding newhorn de.1ths is nOt
-><
riloks in formula feeding in poor communities where that \\c do not know \Vh,11 to do. There <lrc rnany
potential low·(ost and cvidence-based inlerVentions
BOX 38.2 Principles of essential newborn care available to reduce newborn mortalilY The chall('nge
is how to implemcnt these intcrventions on a large
AJ' MaintaIn airway
sc.lle, rc,lching out to the families who arc 111051 at risk,
Wamnh Keep warm panicul:Jrly those where home ddlVery i.. the norm
Love Keep With mother and access to obstetric and medical services is difficult
Food Feed frequently. breastfeed (nox 38 l),
Immediately. avoid pr&-Iacteals
Hygiene Avoid Infection Levels of perinatal care (Box 38.4)
IIness Treat promptly II is important to establish whal should he lhe mini-
mum Sl'llldMds of nue al each It"\'e! of a health system. 157
BOX 38.4 Levels of perinatal care • Ill1u}equalR nurriliot1all:mrnllerise: parents/carers
may not know what foods children need. Peer
Level 1 Home/domiciliary/traditional birth culture and food tdboos ar..: afft:ctcd by commercial
allendant preSSll res/ad vert lsi ng
Level 2 Health centre/small hospital • Pomny: nutritional knowledge may be adequate
Level 3 Large district hospital but poverty prevents parents/carers from
level 4 Regional referral hospital purchasing foods that enable siltisfa'lory growlh
and health of children
• Poliric'll faclOrs: \vars prevct1l access
World I~ank studies show that, in most developing to food.
countries, marc than 90% of \\'Omen living in the • Psycl1ological faerors: O1norexia nervos01
poort:st quilltile of households deliver thdr babies
at home, uSll:llly with only a relative or a traditional
birth attendant. The care provided at lewl I is therefore
(til",
..., http://ivacg.ilsi.org/
eXlrellldy important if neonatallllortality raIl'S an: to be International Vitamin A Consultative Group
reduced. In India a comrolled, though not randomi7.£d,

trial showed that mortality fell by 62°,'0 in villages where
a hOlTH'-haSf"d Cilre package was introduced involving
@ http://www.sphereproject.orgl
traditional binh atlendant training. health education Sphere Project Training of Trainers courses
and the usc of village women trained to deten and
manage neonatal sepsis using injrrtable antibiotics in
the home. In Nepal, a cluster randomized controlled trial Disease
of a participatory intervention involving women's groups
addre,ssed maternal and newborn hedhh problems in a Illnesses such as pertussis, otitis media. inflammalOty
large rural population. The women's groups showed bowel disease O1nd cystic fibrosis and infections such
aston ishing creativi ty and sel f-orga nizi ng (;1 p01ci Iy- They as lnberntlosis, HIV and persislent diarrhoea are
d":\'doped tlH.:ir own delivcry kits. slretcher schemes. often complicated by malnutrition. There are several
emergency funds and disnlssion groups using picture mech01nisms:
cards for illiterate women. After 2 years, even though • Poordiclmy it/wile: painful mouth, rough
h..:alth services remained WCdk. newborn mortality fell and systemic infection (leading to elev01ted
by one-third and maternal dealhs by three-qllart~rs. inflammatolY eytokincs that cause anorexia)
The COSt of Ihis demand-side intervention was just Ixe\·ent ildeqnate food illlake.
~O.7S per head. • Mrl/a/isorpriof1: persistem didTrhoea (e.g. in
coel iac discJse and Giardill infection) causes
@ htlp://www.child.ich.ucl.ac.uk ltldlabsorptiull uf fat anJ fdl·sulubk vitaltl ins.
UCL Centre for International Health and Oellelopment Iligh-laclOse diets contribute to diarrhoea in
clinical lactase deficiency.
• Increased llurrielJl rn/uiremenl.l: energy expendilnre
is increased in systemic infection by ilround 10%
Nutrition and malnutrition for eitch degree Celsius rise in body tempcrmure.
• Metavolic respo/lses: inflatlllllillory response
Causes of malnutrition
causes reduclion of plasma levels of
Malnutrition is l:'sscntially the end result of the micronUlrients including vitamin,\ and zinc. and
interaction nf lh ree factors: diet, diseases and ("ilre. liver transport proteins such as dlbumin
and relinol binding protein. Catabolic responses
cause muscle breakdown and increased urinary
Diet nutrient loss.
Diet01ty intake should be O1ssessed for macronutrient
and micronutrient content and quality. Macronutrient
Care
intake (0111(.'5 from .arhohydrate, fat and protein;
the protein:energy ratio should exceed 1SOlo. l'vlicro- Lack of time and/or compassion le01d to inadequate
nutrients come from specific foods such as green leafy nutritionJI intake. A poor sociJI environment at home
vegctabks and carolcll..:·cuntaining fruits for vitamin where nurturing is absent. or dn unsuppurtive feeding!
t\, meat for iro11 and fish for zinc. Poor dietary intake nutrition culturc in hospilill/c1inic causes rnalrunrition,
158 is caused by: especially if the patient hJS anorexia.
Diagnosis • Ilypothennia
• Ilypoglycaemia
C~nain malnUirition syndromes haw spt:cific clinical • Dehydration: often under-diaKllosed in
signs such a'l se\'t>:re malnulntiOn (previously called kwashiorkor because of illlerslilial fluid and over-
prOlein energy malnutrition) or deficiency of vitamin diagn~ In marasmus b«ause of loss of skin
.\, iodille or vitamin D. Howt."\"CT. the majorit)' of child- e1aslicity
ren ha\T sulxlinical malnutrition • Metabolic problems: decreased inability to excrete
@ httpJflndorgs.virginiaedulicciddl
sodium adequately and tendency to de'velop fluid
overload. leading to cardiac failure.
International CouncIllor the Control of Iodine
DehclElllCy DIsordefs
Pr-evention
Improving household food security, nuuition knowl-
Subclinical malnutrition edge ;lIld carl' in poor communities is vital. a~ arc pro-
moting family hygiene and sanitation, ensunng immu-
Diaio;nosin~ this (onn of malnunilion requires the use
ni7...1.tions and deworminl1,. encouraginJ.; carly lreatment
of dlHhl'OpOlllctnc measurcmclll~ and blood assays. for childhood iI1ne.se. and pl'Oh.:cting ,hildrcll in
Interpretation ofbloo<.1 assays in 'Iubdini('~llllicronutrient adverse circllm~tances. including poliucal crises, wars
malnutrition is difficult because of the \-arialion in plasma and famines.
]t'\'c1s of mkronutricllts such as retinol or zinc that
occurs III infl.1mrnation. Evidence thai a micronutrient Management
deficiency is present in a population comes mainly from I. Illjfjfl/ $/tlvili:Ul/i(l11 phaj<! (1-7 days) This involvcs
trial~ of micronutrient interventions, which have shown
treatnu:nt of fluid ,lIld elcctrolyte imb.llann:
the Impact of vitamin" deficiency on eye disease and sepsis, corneal ulceratIon due III vitaulln
and monalil)' and the impact o( zinc deficiE'ncy on A deficiency. severe anaemia. hypogl)'caemi.l
diarrhoeal disease and mOrLllity. Lven children with h)'l>othermia and infection. [nf..."Ction'S arc difficult
Sdtisf.lnory anthropometric indict·s {weight and height to diagnose on clinical grounds, as signs art' less
against intE'mational standards (or their age) may haw striking in S!l-I All children wilh S.\I should receive
subdinicalmicronuLrient malnutrition d broad-spcctrum antibiotic. Refl'Cding starts .....ith
small frequem meals of low osmolalit)' ;tIld low
Severe malnutrition (SM) lactose providing around 75 kcal/kg body weight!
dOl) until oedema dears.
SM is defined as the presence of pMa! oedema or 2. rail h.up grou'lh. TIl is rt'quir\.'S at!ea"t 100 kcal/kg
severe wasting (below 3 SD weight for height standard body weight/day for at least 2-6 weeks AVOId
or Iwlnw 70% median weight/height stJlldard). '111ere o\,cr.fIXxling. which may predpit,lte Gudiac f,lilure.
are sewr:!1 c1inicill syndromes: (IS(' low·"odiulll rellydratioll solutinn.. (60 mmol).
• M(lfll$lIll1S is duracterized by severe visible wasting Multiple micronutrient supplementS (\\1110
with lark of body fat and lo~ of muscle Illass formula) :HC added to the fecd. Once infcction is
around the arms, bUllOCks and thighs. rontrolled and lhe child is gaining wl'iglll, f('rrou~
• KU'lulu"Ql'kof involves severe pedal oedema, sulphate may be added Oral vitamin A should be
,onu::limes spreading all ovt:r tlu: body and often
associ:ued with cracking of the skin; there lTlay be
discoloration oflhe hair in kwashiorkor. Plasma
.. Ihumin is lower in kwashiorkor than in marasmus.
given on admission.
1, r~llmj'-llp. It is important 10 mainl,tin an adequate
dietary lIltake once the child i~ 011 home Ready.to-
use ther.lpeutic feeds can be made up using local
-><
Ul
mixes of ground nuts. sugar, oil and micronutrients

Causes in heat-sealed bags, which Gill be gi\ien to Illothers
• Poor diet.uy imake of energy, protein and during regular \'isitS to the nutrition unit for
micronutrients checking that weigh I gain is maintaincd. Sensoly
• Precipitating infection such as measles. persistent stimulallon and emotional suppon are imponant
diarrhoea. tuberrulosis and III\' to ensure recO\"Cry of child d~"Clopment. Rates
• l..drly cessation ofbreastfreding of weight gain during the rehabilitation photsc
• Psychosocial stress within family. can exceed the normal (I gfkg body weight/day)
for children betwttn 1 and 5 years. Weight g,lin
Clinical features of at least 5-10 gfkg body weight/d.ly ~hould be
• Poor resistance to infection. especially pneumonia, achie\'Cd, S'\ is increasing.ly precipitated by IllV
diarrhoe.l and tuberrulosis and antiretroviral dmgs rna)' be used 159
Table 38.4 Deficiency syndromes, their causes and management
Deficiency Clinical features Prevention/treatment
Vitamin A X(l(ophlhalm,,~
In severo casos MJng0, papaya, yellow sweet potatoos, carrots, p<llm oil
Night blindness
Reduced immunity
linc Sutx::linical deficiency commoo Fish and meat

<J)
Q) Acrodermatilis ooleropathlca Attent,on to cooking methods to reduce phytale levels
'C Thiarnirl€ Beri-berl (perIpheral neuropathy and cartliac failure) Thiamine i.m. for beri-beri
1:~ Ribofl.Jvin Angular stOlTliJtllis Avdd oV8Heliance en cereals
o Anaom~ Ribonavin orally
u Nacin Diarrhoea, dermatitis and dementia Varied diet
'"
.5
C- Vitamn C Clir1ical signs rare lScurvy)
Thiamine orally
Ensure fruit in dl€t and avoid excessive boiling 01 vegetables
o2 Iodine Go~ro.intoilocTualloss Supplement with ooine to combat deficiency in sdl
">
Q)
'0 1m'
Poorgrmvth
Anaemia in severe cases
Trool w th iodized sa"
Meat eating
Irnp8Jred psychomotor developmerlt
.5 VitalTllnD Rickets Ensure adequate e~posure to l"Jht
.s:
'"
~
FoliC acid MegakfJastic (lfIaomlJ
AtrophIC glOSSitis
Troot WIth fdic acid
"
.s:
:2
---~---------
.s: Deficiency syndromes BOX 38.5 Other names for children in difficult
(J circumstances
Di~c;J~e or di~;JbililY lIlay arise a~ a result of a number
of specific deficiency syndromes or a combin;Jlion • Children in especially difficult circumstances
of mulliple deficiency disorders. Table 38.4 lists the (CEDCs)
major femmes of deficiency ~yndrolIles. • Children in special circumstances (CSCs)
• Children in need of special protection (CNSP)
,\-lore detailed information i~ given on the
website. • Children at risk
• Vulnerable children
@ http://www.ennonline.net • Orphans and vulnerable children, made
vulnerable through HIV (OVe)
Emergency Nutrition Network
http://www.who.inVchild-adolescent-health/
The major groups generally rla~sified <IS CDC arc:
pUblicationslCHILD_HEALTHIWHOJCH_CAH_
• Children living and working on the ~treel
OO.1.htm
• Child workers
Management of the chIld with a serious infection or • Orphans (usually now defined as having 10S1 one
severe malnutrition or both parents)
• Children jj"ing with 11iV
• Refugees and migrants
• Child soldiers
Children in difficult • Sexually abused and exploited children (including
circumstances (CDC) those involved in pro~titution and pOTllogmphy).
Some countries am! organizations would also
Who are children in difficult include:
circumstances? • Children in CU$todial carc
The term 'children in difficult circumstances' describes • Children of imprisoned mothers
a number of differenl categories of children who. as • Child/Jdolescent mothers
the n"me implies, Iive in difficult or extreme siLUations • Child carers
Thc terminology in this <"lIea "aries between countries • Children of sub~tallce-abu~illgparents
and organiz<lliolls, somcthing you need to be aware of • Children ofparel1ts with learningdifticulties.
(or Web searches. '1 he Olher names frequently used for 'Illere is, however, considerable overlap between many
160 CDC are shown in Box 38.5. of these groups. For example, nearly all street children Jrc
also working children and being in one group makes
BOX 3806 Some global estimates for children in
a child \'Ulnerable to olher forms of exploitation. For dIfficult circumstances
example. orphans arc more li"dy to cnd up living and
working on the street or in child labour, and girls in • 210 m children aged 5-14 economically active
domestic service are panicularly vulnerable to physical (International Labour Organization (ILO) 2004)
,md sexual ,lbusc. • 110m children aged 5-14 Involved In hazardous
or intolerable labour (ILO 2004)
\\t' ~hould not a,>sutne. however. Ihat <lifficult circum·
.st,l~ .1I'e .1lways harmful to children. Children respond • 10-100 m street children (depending on
VC1)' difTcrcntly to adverse arOlmslilllCC5. Somc dlildrcn
definition) (United Nations Children's Fund
(UNICEF) 1998)
g.lin ~tl'Pnglh and I'P'Illience a5a result of adWr.>l:' situations.
1"01' many the circumstances will be the nann in lheir
• 10m ch Idren involved in the sex Industry
(UNICEF 2003)
experience. ror cxample, many childrcn in poor com-
mt11lilit.~ would expccl to work througholll childhood
• 300 000 children used in armed conflict OLO
2003)
.1longslde their pccrs.
• 14 m children have lost one or both parents to
HIVIAIDS (Joint United Nations Programme on
HIVlAIOS (UNAIDSj 2004)
How many children are involved?
\-Ve know tll.1t huge numbers of children around lhe
world call be rlilssificd as CDC but it ill vcry difficult 10 • I 'ow'ny
e~timat(' a0I1:l1 figures for several re:lsons· • Disruption of(,ullily and support ~YStl'lm:
• In the countries where lhe numbers arc greatest, Conflict
infOflllollioll collection systcm.:'> drc lI<;ually vcry - lIrhani7.<llion (mralto urban rnigr.uion)
puor - Children separaled from families 10 seck work
• I\lany of the acti,'ities of CDC are illegal and hence • Deficiencics in thc cduall iOllal s)'MtOm:
hidden, illdcc€'~iblF?, lillaffordable and poor -quality
• \'ovenuTlt'Ill.:'> art' not mOli\'ated to reveal real schooling

figures, ("'<'ell if they had lhem, for fear of criticism. • [neft<.'Ctivc cllfol'{"cment of rc!t-"\'<int Ill;l~latlon.
Furtherlllore, where figurt.~ Me a":tibble, they are

mrelydl",lggregaled by age and sex, which Me both key What is the relevant legislation?
determinJnts in lenns of vulncrability. exploitation and
[n mOSI C()IlI1lnt's thi'i is based on the Ul' Com't'lltion
risk of long-tum damagc. ror eXiHllpk, it may be quite
on Ihe ~ights of the Child (UNCRC, 1989). °nlis
acceptable for a 16~year-old to work on a plammion.
has bttll a highly inlluential documenl in defining
but il is certainl)' not acceptdble for a 6-ye.1r-old.
lighls of .,11 ('hildr~t1 (d~fined as under lhe age of
So. <lltllOUgh gloh<ll and natiollill estimates should
18) around lhe world. All but two COUlltriCS (thc liS
he trealed with caution, they do give ~ome indication of
and SOl1lali.l) h<l\'c riltined thc COIl\'t.'1l1ioJ1 <llld most
the maRllitlide of the problems. Some offici,ll estimales,
have illcorporaled much o( the contetlt into tMtiot1.11
11Minly sOllr~cd frOIll UN org,H1izdtioll~, tHe shown in
legislature.
[)ox 18 6.
The lJNCI~C has 41 ankles, which ~t'l ~t.IIl(l;mls for
An inlluclltiJI UNICEF report has helped us 10 under-
~tand lhc impaci all childr('n of war alOIlt'. The report
(ll"-lI(:1-I" 2(00) looked al lhe effITt of wars from 19BG
to 1996 and found that:
the right~ of all children to survive, develop, Ix> pro-
tected and panicipate fully in socicty. Ankles illclude
guarantees of:
• Health, f'ducation and carl'
-><
U)
• 2 m childrcl1 wcre killed

• PrOlecl ion from violence
• G In children were injured
• Protection from <.'Conomic exploilaliotl.
• 12 m children were made homeless
• > I million children were orphaned or scpilnlted -111cre are also imponant optional protocols on
from tlwir parents. im-oh-cmcnt of children in armed conflict ,lIld Iht· sale
of children for proSlilll1ion and pomogral)hy.
Clearly many govemments cannOI RUarantee these
What are the causes of difficult rights. p"nly because of resource con~tr.tiltl.s, bUI all
circumstances? signatory coul1trit.'S rcpon 10 Ihe til' O)lIIlI1iuee on
the Rights of Ihe Child and they need 10 demonstrJte
f:lcarly tIlt" Cdll'WS are multifactorial ,mel will vary by progress <It least tow.uds meeting the obligatiolls and
silll<ll1on and COUlllr)'. The major c.luses are: standimh in U NCRC 161
@ http://www.unicef.org/crc BOX 38.8 Potential health hazards of child
labour
Full text of the UNCRC
General
• Exhaustion. abuse. loss of educational
Examples of CDC opportUOlty'
<Jl
'Ihere are dearly many CDes in the UK, but here we Agricultural work
."c:
~ are Roing to focus on the two largest groups from a
glob,tI l>ers.pcrtiw: working children, and children
• Injuries, pestiCides, paraslhc diseases, heat
~ Mining/construction
o who li\..., and work on the street.
• ACCidents, respiratory illness, musculoskeletal
"c: problems
'"o
.0. Working children Manufacturing
Child labour is defined by the ILO as all economic • Injuries, hearing loss, exposure to toxins/solvents
Qi ,1Clivities carried out by pcrson:.lc:.s tban 15 regardless
> Domestic service
"
1J
.£
of their ocrUJlilt iOllal ~t;HU~, t:XC~pl household work in
the p:lrenl<;' or carers' home. An estim:lted 110 million
• Physical/sexual abuse
childrenllnder the age of 15 (or 20% of all children in Street work

.c: the age group).He involved in <;01l1€ form of economic • Road traffiC accidents, violence, substance
'"'" activilY Around 120 million work full·time while the abuse
"
.c:
1J
rest combine work with some form of education. The
highe<;t prevaknce of child work i<; in sub-Saharan
Sex work
• STIs/HIV, violence
.c: Africa, where around 40% of all children are primarily
• Loss 01 educational opporftrlity leads indlt9C1 y 10 poor
() involved in work. This compares with around 25% in
Iong-Ierm health, partly through Iowet earnIng poweI", lower
Asia and 12% in Latin America. SOCIOeconomic SI;r.us and lower health knowledge. nus health
disadvantage is now kfIooNfl to extend 10 me next generallon.
What work do children do? The edueahon 01 "'-'OmefI15 partJcuIar1y importanl in ImpfO'II1Tlg
The major categories of child work are ~hown in hea Ih outcomes for children.
I~ox 1f1 7.
Agriculture is dearly by far the most common form
of child work. and children in rural areas are twiet: intcrvcntion. Harmful in this contexi means work
as likely 10 be working lhan ,hildren in urban areas_ Ihal i<; liI..ely to harm the health, S:lfel}' or morals of
Agricultural work ranges from (usually unpaid) work children. Clearly the heallh of childrcn is crucial 10
on f,llnily land to plantation work within the formal this definilion
scOOI.
Child labour is a necessity for many poor families, What are the health effects of child labour?
who rely 011 the incomc or help pluvided by Iheir There is poor evidence of hartn 10 ht.:alth ill many
chili.lrt·11 to survive, This Llel is (lcknowledged in the sectors of child I"bour (panly because of lack of
legi<;I.ltivl" framework for child labour, which is based ~}'~l~matic rigorous studies) but wc CMl malIC certain
on the UNCRC. \-vhat the It:gisl,lliull now recognize<; assumptions (Box 38.8).
i~ Ih'" 'llmlition of child labour i<; not realistic in the
fore<;....ahle flllllre, but thai policy approaches should http://www.ilo.orglpubliclenglishlsupportl
instead target work that is harmful to children for earlr pubVchilwork.pdf
'ChIldren al \>\'ark: Heallh and safely Risks': a good
summary of the potenlla! health hazards
BOX 38.7 TrPu of chIld work
Three final poinl.'i demonstrate the difficuhies III
Agnculture 70% trying 10 improve conditions for children who have to
DomestiC w()(k 15% work-
Manufactunng 8% • Workplace regulations often apply onlr 10
Transport 4% cmployee<; in the rannal S4:':ctor and mOSI children
Construction 2% work in the infonnal S4:':ctor.
Mining and quarrying 1% • I.lecause children arc 'not allowl,.'tl' 10 work there is
(Data from 26 countries, ILO 2003) oflen no Icgi~lation to protect chem from the more
162 hal'A1rdolis t:lsks
BOX 38.9 The two types of street children BOX 38.10 Street children in the PhllipplOes
Children o( the streets • Population c. 87 m
• Street IS the chIld's home • 2.4 m children on the streets
• Seek shelter, food, companionship among other • 70% go home every ntght
street dwellers • 5% complelety abandoned
• Abandoned, orphaned, runaways • 25% Intermittent home support
• RelatIVely small numbers, probably less than • 5.5 m children (aged 5-14) in the labour mar1<et
10% of the total
• At least 500 000 girls under 15 in domestic
Chiktren on the streets service (llO 2000)
• Have family connections • 60% exposed to hazardous work: 20%
biological, 26% chemical, 51 % environmental
• Go home (family/extended family/caring adult) to
sleep
• Just work on the street
• $ubSI<lllCt: tnbll~t:: alcohol, lobacco. cannabis,
cnr;lin(> ;md especially solvents
• For the same reason proto.:ctive dOlhillg ilild dt:vices • Mental disorders
ilrc o(ten simply 110t made in child si7es. • Violence
• Poor nlltrilion
• Limited access to hcallhcare
Children who live and work on the street • Sl1s/IIIV
111is is tht: IHcfcrred term (or what llsl!d to he known as • Pregnancy.
street childrt"n (although strl!l!t children is still used as Pregnancy has led to the phenomcnon o( a second
,) shorthand). They are defined as children who Iiw or generalion on th~ streets of many cilies
spend time on the Slri."CLS, "upporting lhemsehoes and!
or their families through various occup'ations, and who A country example
are inadequately cared forlsupcrvisi.:d~' caring adults. 111C Philippint'i is d good example ofa country with large
111.: reason thaI lhc t'Stim.Hl'S of their numbl!rs numbers ofworking and sueet children (Box 38.10).
vary hllgply (from 10 to 100 million) is panty because
of the different classifications used. TIley arc usually
@ htlp:/Iwww.ilo.org
dividt.-o into t\\'o catcgork'S: children of the sm~ets and ILO; InternatoonaJ Programme lor the ElimlnatK)l'l 01
children on Ihe strt>:ets. The characteristics of the [wo Child labour (IPEC)
groups are shown in Box 38.9.
TIle l<llgc~1 numbers o( strec! children are in L.uin
@ http://www.Slreetchildren.org.ukl
Amo:rk... (an c~timatcd 40 million), followed by Asia An e~celleol starting point lor informallon on slreet
with 30 million and Afric.l with 10 millioll. Roys children
olltlllllllbcr girls by a factor o(arollild 10 to 1
@ http://www.ucw-project.org
What jobs do street children do? The Understanding Children's Work. group, a
• Bcggillg
• It,lwking to pedt'Slrians. motorists
• Directing vehicles to parking areJS (or a tip
• Cu.uding \'Chides (or a lip
• Sellillg drug"
@
collaboration of the ILO. UNICEF al1d lhe World Bank.
http://www.unicet.org
Usefullnlormation about all types of CDC; now
UNICEF collects specific dala on child protection
-><
en
• Penycnme
• Collcclin~ paper/rubbish
• Shcx' shining
• Girls: moslly begging and prostilution.
What are the health risks for street children?

• 1nfenious disease, especially ~asuointcstinal
disorders and skin condilions
163
m
<
m
Z
Stephen Hodges Susan Bunn
Gastroenterology 39
and hepatology
Diagnostic investigations 167
Enteral and parenteral nutrition 173
Acute diarrhoea 173
Vomiting and regurgitation 176
Chronic diarrhoea and malabsorption 180
Acute abdominal pain 183
Blood in the stool 185
Liver disease 187
.. •
By the end 01 this chapter you should:
• Know and understand the basic science of bowel function
• Know and understand the common methods for investigating the gastrointestinal tract
• Know and understand the causes and management of common paediatric disorders
affecting the bowel
• Know and understand the investigation and management of the common liver
disorders.
be[\\'t,,-cn Cellues. GenNal principles and applications arc

Diagnostic investigations
di~nl~St'd below til
III asse:.sing a child for g,I';;Ifointcstinal rondilions a
careful .lnd thorough hlMory and examinalion is crucial m
( h 5).
rhe teslS undcnako:n GlllthclI be <Ipproached S)'S[~ma
Oesophageal pH monitoring
Oesophageal pH monitoring permits the a~wssmelll
<
m
(iGllly. Blood tests may be helpful, but abnormalities aw of the frt."qucncy and duration of oesophageal acid
uSll.llly non-specific and not diagnostic. A diagnosis will
generally be confmncd by a series of rclt"''<llll tests or
exposure and its relationship to symptoms. A pll study
monitors intra-oesophageal pH, usually OWl' a penod
Z
larg(·I~·d therapellllc trials. of 24 hours. II can be combined with heart rate and
All ide,lltest is sensilive, specific. simple. inexpensive, SaluT<llion monitoring in a young dlilJ to inwSligate
safe. non-invasive, convcllknt, <!cceptilhl,' to Ilalients whether respiratory CVCIlL,> ,Ire associah:~d With g.Htro-
and slafT, objeclive, f('liilhle and amenable to serial oe::mpllagc(11 reflux (r.OR).
ll1e<lSlIrelllt"nts 10 perrnil lh~ assessment of therapeutic A pll study is a safe test, but it is illV<I~i\' ... and
intervcntions. There arc 1\0 sudl tests ill pdcdi,mic g,\stfO- keeping lhe probe in placc llIay be difficull in IOddler~
cllterology. so a number of tests aft' oftell used and and uncoopcriltivc ch il(lren. It should therefore only be:
tho'>e chosen fOf a specific clinical scenario may differ undertaken ihhe results will influence: llIdli<lgclIH'111. 167
IlH' ,est is performed by ,h(' trnnsnasat passa.gc It also has a place in assessing the adL'CJuacy of acid
of ,1 miu()(']ectrode containing a I'll sensor inlO the suppression in chiklren who remain symptomatic despite
lower OCSOpIMgUS. Its position is usually confimled being treated with a proton pump inhibitor (prl),
T<ldiIJlogiG\11y. 'I he child i.~ cilrouraged to cal, Jrillk <11\(1
continue as near 110rl11:\1 activities as possible during
the study. 111e time of <lny drinks or meals is recorded Radiological contrast studies of the
'>0 thai their dTecl 011 the study can be assessed. If gastrointestinal tract
,.Ill? study is being performed to see if other clinical
Radiologiall con1raSl studies of the gastrointe~til1<l1
features arc .Issociatcd with COR (coughing. abnormal
lTaet play an important role in assessing a child wilh
movements, crying. paill elc.), then the child or carer is
gastrointestinal symploms. but like the pI I sludy lhey
asked to record the lime of any of these events during
:lIsa have their lim il"1 ions. All involve a sigllificam r,ldi,I-
lhe study. The I'll data are recorded on 10 a portable
tion exposure. and some are invasive and llnpleas.lnt for
recording device. frorn which they are downloaded Oll
the child. Before requesting a COntra!>l sludy camidera-
10 a computer and analysed by software progr<lmmes.
tioll has 1.0 be given as 10 whelher it is the best tCSt
Usually a gr,lph of intra-oesophageal pll against time
available to answer Ihec1inical question posed. Contrasl
is produced, on whirh meals and 'clinical {'vents' can
studies are paniclIlarly good at aSSL-'Ssing for ,matomical
be shown (Fig. 391). 1ne 'reflux index' (the pernO:T1lage
abnormalities causing syrnptoms. 11,,: comlllonly used
of Ute study in which intra-oesophageal pi I is < 4)
contrast studies and their more lIsual indications arc
e~timalL~ the IOta I acid exposure lime and b considered
summMized in T,lble 39. I.
the mmt sensitive and specific measure. A reflux index of
up 10 12% inlhe first rear of life and up to 6% thereafter
is considcroo normal. I\n abnormal reflux inde.x is found
Hydrogen breath tests
in 95% ofchildren with oesophagi tis bUI the reflux index
docs not correlme wilh the severity of ocsophagitis. 111e principle ofthe III breath teSI is lhal anyundigestedJ
Additionally. il should be remembered lhal nOl all malabsorbed sug..u that reaches a part of the g.lStro-
children with significant COI~ haw oesophagitis. ·I1H' intestinal trdet that has organisms within the IUlllen
time taken for <leid to be c1e<lred from the oesoph:lgus (mosl usually the colon hUl also the slll<lll bowel in
afler a r{'flux episode Gill also be assessed by a pll sludy slllall bowd overgrowth) is then fermented by the
•lS a proxy for oesophagealmotiliry. organisms, producing 11 2, whidl i!> excreted in the breath.
·11110' breath III monilor is a Sl1MII hand~held device into
\\'hich the older child simply exhalcs. In a younger dlild
Limitations of the pH study
breath can be col1cett.-'C1 by the use of a face mask. Hrt:<lth
It is nm a diagnoslic test for GaR, as any cause of 11 2 is plotled againsl time from carbohydrate ingestion
vomiting can cauSt': an abnormal study. Likewbe, a on a graph. '111e normal small bowel transit lime is
negative test docs nOl exclude COR, as only acid reflux considered to be approximately 2 hours, such that
l'pi~ude~ art~ deleeled. Postprandial GaR in particulM an increase in hrealh 111 at ba~e1ine or before 2 hours
is missed. as the g<t'>lric acid b buffered by foooslllfYs suggests small bowel fermentation and overgrowth,
Jnd the reflux,llc tends to havc a neutral pi!. 'Ihis can be and aftef 2 hours colonic fennenlation due lo sugar
ovcrcome somewhat by using a dual probe technique maldigeslionJmalabsorption
(a lower and upper pll probe, the lower probe being If sugar maldigeslion/malabsorption is suspeCted
placed in the SlOmach and the upper in the lower (for example, laclose). then the candidate sug.u is given
ocsophagu~ - hellce times can be idenlified when as :In mal bolus <lf1er fasting. "1111, sllldy would ~tdn
thc inlragdstric pll i<; ncuml1 and COI~ would nol be with two baseline readings :ll -30 mins and 0 millS,
detected). Some cemres also advocate thal one feed and then the ~ug"r is administrated al time o. Brealh 11 2
wilh a rdatively low pH (usually apple juice) is givcn is measured every 30 minutes for 3 hours. I;ib'llre 39.2A
ovcr lhe Mmly period so that an increa~e in postprandial shows a nonnal 11 2 breath tesl in red, where there
reflux c.1n be identified is no inCf('ase in brealh 11 2, as no significant amount
of Mtgar has reached lhe colon. ·l1le results shown in
blue are an abnonnal II! breath teslthat suggests sug.1r
Situations in which a pH study is most
malabsorptionfmaldigl.---:>tion. as ulCre i~ an increaSt:
helpful
in brealh 11 2 :lncr 2 hours when lhe mdldb~orbt:df
A pll study is useful in dctennining whether symptoms maldigcsted sugar is fermented by colonic baCteria
such ,IS p,lin, crying and abnormal movements (Sandifer's Figure 39.2R shows a lactulose H! brealh lest. \"hich is
!>yndromc) arc as,'lOCiatt.'<i with acid reflu;.: or whcther the preferred test forsmilll bowel overgrowth. As laclulose
168 GOH could be cOlllributing to airway complications. is a non-absorbable sugar, in a normal child the pallern
pH
90 •• •• •
'0
7.0
60
"
'0
30
2.0
'0
1342 15,00 17.00 1900 21,00 23.00 1.00 300 5.00 7.00 900 11 00 1300 1442
Period labl'
• EpisOOes of chest ~Irl
Item Total Uprighl (chest pain not related 10
DUfBliOfl of period (HHMM) 24:01) 24:00 reflux events)
Number of aCId retluxes I') 31 31
N~ of long acid .efluxflS
Longest aCId re'lwt
I~
I~)
0
1 ,
0
TIU t '1'18 pH below.4. 00 ,~) 12 12

Fraetoo line pH bllkr,Y 4 00 1%, 00 00
pH
90
80
7.0
60
50
'0
30
20
'0
23.42 1.00 300 5.00 700 9.00 11.00 1300 1500 1700 19.00 21(1() 23.00 0.42
(f)
Period table m
"'m
Dur.lton of pe'iOd (HH:MM)
'2340
ou' <
m
NI.wrbef of aCId reftuxes I~ 392
~ 12 long acXl r9&Jxes
Lorge3l acJll re"ux
I~
(rrIn)
28
37
Z
ToliIIlIme pH below4.00 lmo) 603
Fl3etion tiMe pH bekr«4 00 1'1 ."
B
Fig. 39.1 Results of a pH probe.

IA) Normal pH study in a 12-year-old boy with episodic chest pain. His chest pain is not associated with his lnormall
reflux events; (B) pH study in an 8-year-old child with neurodevelopmental delay, showing severe gasuo·oesophageal
reflux (GOR). She has a reflux index of 42.4% end poor oesophageal clearance of acid, shown by numerous 1000g acid
reflux ellents, the longest being 32 minutes. 169
Table 39.1 Radiological contTast studies
Contrast study
V oeo/'lul:Wo$CO(ll'
Part of GI tract ellamined
OraPnatyfIX
_......,
Indications for use
~ f~CW1Q aspta".JOrl on
As:sess'OO"lt 01 ct d's abr.y to

Cooditi0n'3 identified
~pasi
PseJdo..-tUbar palSy
-
swa tOw d "(rOOt COf'5isleroes 01
~u!Cl!'ood s.Jldy
'"
Cl
0 Rrixn 5\\13 loW" ~l8gUS Oesophageal pouchesi\',ebsl
0 To inl"6Stlgalelracheo-oesophagrol 5tf1clures!l sluloo
1il0. fistula
Barium meal OAsop/"1aglJS, stomach and RBCUrrl,lnt \fOI'tllting H.atlJS hortll"
III duod8rom Gastric outflow obstructron
~
Malrotaliofl (l' dJo<lon<lI jelwnal
tJ IleXl.re to ri(tl1 01 midllI1l
C
III 8...".,...m rTleaI and Oesoptagus. stomac~. To 'd8rt'l~ presence of smalllx\wel Small bowel erom's disease
'"
Cl
0
IoIow ItwoLJ!il ().;ooerUTJ )eflJIll.6ll and i!e\,m Crctvt's d sease
Partial smaI lX7NeI obst'lJcil.'€
s,'ITlp:oms
SmEll bowel SlricllfiS li.18 to
Crotms dsease or ~.SlJgeo;
0~ "'Ole: 1TIllges are rot as good as

III 'I. th srr.al-1X:Jweo oort:ra51 s'udy
~
C Srrdl-txw."2' s~dl' Doodenlll'l. ep.n.rl.lOd oEUll To dent!)' snllln to.-:e C'Ohn's c sease Sma. bowoI CrotYt's d1'3663e
III
0 (1eq..we5 duodenal Partial smaI bowel obsll1.JC'm Sma; bow& stl1CU'OO due to
~
..,tubbuon~ s,rnp<""" Crohn's disease or post surgery
1ii Contrast enema Rectum E1nd cdon To reduce In1l1ssusception
III
Cl (theraPflI.JlIC)
Very rarely used diagnostically in
children
"[
"•e "
"[ JO
"•e
c
~
~
5
~
~
•
2Il
.,
, ,
/' ~
~
S
•,
•
m
21)
10
-JO , JO SO go 121) ISO 180

-" JO 60 go
Time (mirlUtes)
121l ISO 180
Time (minutes)
[ - - No slJlIaf rralab5~.on (normal msl) - - &.gar mal<ltJsorpOOn )

l
- - Abnormal
Str.aI bowel O\ergrowth
I
A B
Fig. 39.2 Hydrogen breath tests.
(Aj A nonnaf test (red) with no sugar malabsorption, and an abnormal test (blue) when malabsorbed sugar is
fefTTlef1ted by colonic bacteria, increasing breafh hydrogen; {Bllactulose hydrogen breath test showing a normal test
(green) when the non-absorbable sugar is fermented by colonie bacteria, increasing breath hydrogen, and an abnormal
test {purplel when small bowel organisms fennent the lactulose, producing an increase in breath hydrogen prior to
sugar arriving in the colon (double peak sign).
i~ ,IS shown in Figure 39.2A; the gl'eell lille is I>CCIl as org:H1isrns in the stnOlIl bowel, and Ihe second peak
the non-absorbed l<lctuloM: is furnCllh'(! ill lhe colon when the lactulosc rCdrhcs the colon.
However. in Figurt> 1')211 the purple line shows .111 BOIIt false positive and false negative hydrogen
,Ihnormallaetlliose hydrogen breath test wilh an early breath It'SI resullS can occur. False positivi.' l"1.-,:>ults.He
170 peak. SUAAcsting lhat thc sugar is heing f.. nnented by seen with inadequatc pretest f01slingor rt'ct~nt smoking.
Table 39.2 Serological studies even low tiues uf ~crum IgA endomysial anlihodies arc
Antibody Sensitivity Specificity specific for coeliac disea~. The largel antigen h.ls been
gA €Il'ldolTl','SiaI':''lhbod,' IlgA E'.v.; 8<H>6~ 9' 10Cl% identified as a lissue transglutaminase.
gA tis9lk t'BJ'sgIularr 'lase an:body 95-97~
'IgA tTG)
Anti-tissue transglutaminase antibodies
I"iA ant<;jktdn .....bod'lllgA AGA) 8HlO<.
IgG ar"'1fJladn a~:l!:JG At:3N 7~""
lnzyme-linked immunosorbcm assay (ELISA) ll'!its
---- for IgA al1ti·tis::;ue tldllsglut<lmina.,e <Illlihodit's arc
nm" widel}' available and are easier to perfoml and
faist, nt:gative re'mlls Gin be seen aflE'r Ihe recent use less costly than the immunofluorescence aSSdy u:>cd to
of ,1ntibIOlics, in patients with lung disorders or in the dctecllgA endomysia! al1libodics.
approxim.lIc1y 1% of children who arc 'null-llydrogen IgA F\1J\ 19A rre; and 19A ALA le\.'pls f,lll with
produccr,,'. Or<ll bacteria m,,}' lead to all l;',irly hydrogen treatment; as a result, theSt' ass.JyS (an be used .1S,) non-
pe,lk and pretest mouth-washing with an .lntiseptic is invasive me,lns of monitoring the rc~ponsc ,lilt! adlwretlct'
10 a glulen.frt't' diel.
advocated by some units. The 1[1 pe<lk occulTing from
IMrlnial ovt.·rgrowth in the (li.stal small inlestine lll.-ly
he diftiCli1110 discrimin,llt' from Ihe normal peak seen
Testing for Helicobacter pylori
when lhe lest sugar rcaches the cololl. Addilionally.
rapid ddiwry oflhe lest ~ugar 10 lhe colon in paliellls J I. pylori can be identified by histologic,ll ex.1Jllilldlion
with shon howel syndrome may lead to false positive or on GIIIIPI'lubtld('r-like organi~m (00) It"ling of
results. mucos.,11 hiop~ie~ collt:C1ed at upper gaslrointestinal
endoscopy Ilowe...·er, non-invasive tests hdve .1 role
in diagnosing H. priori infection dlld confirming
'Coeliac antibodies' cradic.llio/1 aftl-'r trealmenl
ruur M:rological studies have ocen described 10 i'lid the
diagnOSIs of c~liac disease (l~lble 39.2).
Urea breath testing
Senull IgA endomysia I and tissue tr.lnsgJut.lIllinase
antibody testing han: tht: highesl diagllostic accur.tcy. H. p,lori hit!> thc clIJ.:yme urease, which conWflS llrt:a 10
'111e 18'\ and IgG antigliddin antibo<ly teslS lid\-(' lown ammonia and bicarbonate and then c.lrbon dioxide.
diagnoSliC .lccur.l<y, with frequem false positl\-e f5ults. Ihe presence of this enzyme in the slomach ill .1 chill!
,llld are therefore no longer recomlllended fur initial with H. p"lo"; inft."Ction can be used di,lgIlO'ltiGl1Jy via
diilgnu~lic n7l1uation or sch'('ning. All are k~ i'lCCUrale a slable isutolle brt'ath lest. In children, ure,l labelled
in children under 2 years of age. with e" (non radioactive) is adminiSlered .aftcr fdSl-
Ihe serum ,lI1tibodies commonly used in testing for ing, usu.llly with fresh orilngc juice 10 dd.-ly gdslric
mdi;H di~eil~t' iHt.· IgA ilIld thercfor(' ,.11 haw high falst' emptying If II, /If/or; i~ preseTHlhe ure:l is hydrolysed.
l1eg;llive r.lle,s in IgA deficiency It shol1ld he remem- relc;,sing ell t;,gged CO!. which can bc detectcd in
bered th.1t the coeliac populalion has.l hi~hcr ratt: of brealh samples. Breath i~ mlle([cd and 'JllalyM:'d by
IgA ddi,iclKY IlLdll lhe nOll-coeliac pDpulatiull. Thus ma~s SIWCtrOIllt.'lIy ell is a nalurally occurring stJbk
if nwli"c disc.lse is c1inic"lly stlSpeCll.'d and senlm isotope, <;() it is Pf(>,*,1'll in small qu.1I1titics in lhe breath,
antibodies Me checked, [gA deficiency also needs to be but thcre is an im:red:.c if ii. PJ~ml illf(.'Clioll is pft.'St'nl in
U)
cxc1udt:d. NDlIC of the scnllll antibody lests hilS 100% Ihe stolllilch. It'll' If'SI is bolh highly sen!'>iti\'l' (> 900,i,) and m
~n~itivity and specificity ilnd therefore a small bowel
biopsy is alw.1}"'S needed for a definitive diagnosis.
Lik(.·wi~c. whcn there is a high <kgree of clinical sllspi-
specific (> ()')%) I low('\'(-'r, the test becomes less scnsiti...e
(has a high rate offdlsc ncgaLive» if uSl..'d \\ithill il rnomh
of antihiotic therapy or while the child IS laking II!-
<
m
cion a small howt'l biopsy nuds to be pcrfonned. t'Ven
wilh negalive serological testing
blocking agents or Pl'ls '10 pre..'ent false negalive
results. Ihe child should nOl haw taken :llltibiOlic" for
Z
at leasl 4 wl't·k" and anlisecrl'lOl)' agents for ,1I le.lst
2wuks
IgA endomysial antibodies
Endomysial .lntibodies bind to connecti\~ tissue sur-
rounding smoolh muscle cells. Serum IgA endomysial
H, pylori serology
antil:HXllt"> pnxlllct' a charaClerislic sti'lin ing pattern. which l..aboralol)·-b.lse:d serologICal testing lIsing EUSA 10
is ViSU.llil..e d by indirect immunofluorescence. The test deteel IgG or IgA antibodies is incxpcmi\'c ,HH.l widely
resull is repurted simply as positive or lIeg.1tive, sinn' <I\71ilable. L<If~W sludies haw found uniformly high 171
Table 39.3 Common indications for upper gastrointestinal endoscopy and colonoscopy in children
To diagnose macroscopically or histologically Therapeutic procedures
Upper GI endoscopy Reflux oesophagltis Ditatatiorl of pept~ strictllra
Oesop/1ageallgastr~ vances Sclerotllerapy/baooing of bleeding varices
Gastritl3lgastr~ Lker (GU) BIeed,ng cootrollfl bleeding GUIDU
Duoden'tis/duodenal uIccr (DU) tnsertJon of leeding gastroslomy
H, pylori inteehon Passage of nasotellIl8I tltle
Crohrfs dISeaSe 01 upper Gltract
EnteropathteS IIlCIudlng coeliac disease (F'9 393)
Lower GI endoscopy Polyps Removal of polyps
Inflammatory ~ disease
senSitivity (90-1000/0) but variable spedficiry (76-%%). anaesthelic. Complications .ue rare but colonic perfora-
HOWl,.,·cr, the positivc and negativc predictive valucs of tion can occur at colonoscopy. Additionally, rolono·
Ihe test relale to the pr~t~sl probability of II. pylori in scopy requires bowel prep:tration with laxatives,
the population being studied. Generally, in children which mOSt children find unplcas"nt. Hence, thl.:¥ Me
in thc UK where the prevalence of H. pylori is low, only used in ~decled cases when the symptoms are
a negative test is helpful to exclude infection, bm a sufficiently severe, a tissue diagnosis is needed or a
positiw serologic,'1 test is more likely 10 be a false ther:lpeutic procedure Gill be performed.
positive. As a resull, it is recommended that secondary Common indications for upper ga~trointestimtl
testing (me;'! breath test, stool amigen testing.. endo- endoscopy and cololloscopy in children <Ire listed in
scopy) is used to confirm the initial result before Table 39.3.
initiating tredtrnenl. H. pylori serology does usually
bt-come negative after sllcce~sflll eradicdtion treatmelll
Pancreatic function testing
but serocolwersion is sIO\". Serological testing is
therl'fore not useful for follOW-lip since many patients Pancreatic function tests Cln be either direfl or indirect.
continue to havl' antibodies for months or even years Direct pancreatic fur1Clioll tesling is considered the
after successful eradication therapy. 'gold standard' but is rarely performed. as it is invasivc
and requires intub:ltion of the duodenum. Duodenal
Stool antigen assay secretions are :lspirnted after pancreatic slimulation by
intr<:wenous cholecystokinin and secretin or a Lundh
The prcscnce of H. prIori in the slOol of infeaed lest meal (meal composed ofstand<lrdiz~d nutricnt~).
patiems has led to the d{.'vclopment of faLTal assays. A It allow~ bicMhol1:tle, .lmyl,lse, trypsin and lipase to be
commercially av;~ilable enzyme immunoassay is avail- ass<lyed separately Olnd there arc clear normal ranges
able. Ihe sensitivity and specificity of this test are 94% for comp<lrison.
and 'JO% rcspcclh'Cly when compared 10 endoscopy Several indirect (noli-inv.l~i\'C) teSls of p:mneatic
:md urea breath testing. The ~tool assay has Ihe s..1.me exocrine insnfficienc)' have been developed. Of the
limitalions as the urea breath It..''St regarding false nega- available tests, Ihe most commonly u~L'{1 arc f;wcal
tives after antibiotic u~ and add-suppressing drllWi. chymotlypsin and faecal £I.l~t<lse nleaSllrcrncnlS.
Confirmation of eradication after treatment Faecal chymotrypsin

Confirmatioll of erndication is required after treatment Fal'cal chymotrypsin is easy tu measure and level..
for II. pylori and is f.1.cilit:lted by the availability of are stable in stools for several days. MeasuremcllI
accur.ltc, relatively inexpensive non-ill\'asivc tcsts. Urea. was frequently used in the past as a screeninF,test for
breath testing is the t~t of choice lO ronfirm eradication pdnucatic insufficiency. However, !e\·cls are usually low
of infCClion. SlOol <1l1tigen testing is an altern<ltive when only in advanced pancreatic disease and the sensitivity
urea breath testing is not available, but it is less accurate. for pancreatic insufficiency is therefore only 50-60%.
Additionally the lest cannOl be performed when the
Upper gastrointestinal endoscopy child is taking pancrc:ltic enzyme replacement therapy.
and colonoscopy
Faecal pancreatic elastase
These arc important lests that are useful both diagnos-
tically and therapeutically. I iowever, they arc invasive Faecal pancreatic elast:lse L'Stimation is now the mOSt
172 and in most centres are performed under general widely used test for pancreatic exocrine insufficiency.
Fig_ 39.3 Endoscopic duodenal
mucosal biopsies
Nornal dooOena mtJCOS<l

WIlh tal, fnger4ike ~ and
crypts of normallengttl
Almost total villous 31rrlphy

ifl achild witll coeliac
disease ......1Il eIongabon of
me crypts an naease In
dl'U'Iic ll"lI1afronalay cells
<If'd lJsorgatl.zabon of the
en:e1X~1e 1a','9t
ThE' p.1nCreJlic enzyme. elastase I. is stable during and f(lera! Sudan III staJlllllrjmicroscopy and f,lOOt! acid
intestinal transit and is mea"urab1e a:. f<lec:ll daslase_ "le.1Iocril$ are lhe most widely available. SUJ,u1 III Slain
Arter 2 wceh of .lge il h:'ls :'I high sensilivilY in the on a spal sample of slool C<lll JctL'Cl more ,h,m 9()Oro of
dl:lgno~i" of moderate and sen:re pancrciuk insuffi- palieilis wilh clinically "'gnlfic:llll stcawrrhoe,l, but it
cicncy. The lcst ha:. ,I scmilivil)' and specificilY of 'BOlo need" 10 be properly performed and intcrprclt'd hy :111
for panClealic il1~uf(I('it:Il(Y In :'Iddition. its values expcrienced asSt.-ossor. 111c .Kid slc<llocril i" rerformed
Me independenl of pancreatic enzyme replacement rather like a haematoCTit on a spot stool So.1.mplc and
therapy and call therefore be used while lhc child is giw<; the percentage of the stool thaI is COI11POM-'tI of
tdking 1>iIllCrcatic CIIL)'IIIl:' supplemellls f.lt. It has a sensitivity of 100%. "pt'Cificily flf '):;0:0 and
positive predia.ivc value of 'moot., :\." compared to lhe gold
slandard 72-hour faecal fat collection.
Tests of fat malabsorption
Ifthc clinical history suggf'SIS "ignificalll fal malabsorp- Enteral and parenteral
110n (<;t(,";ltorrhoea). then a variety of tcsts can be
employed to identify whether steatorrhoea is j>R-r.elll. nutrition
II0IH:\'cr. all the It:sts hilve limitations and :lre nOl 1'01011 or supplemenlilf}' nutrition C:'lI1 IX' given vIa
uniwfl\:ll1yavailable. diffCI'cnt routes. cnlC:>C route:. ,mel their :ldV.1nt.1ges,
Currently. the gold :'ldndard (or diagnosis o( :.le<110r- JiSildvillllages ilnd indic.11 ions arc shown in 1:1blc 39,4.
rhuc,1 is qwmtiwlivt' t"ilimation of ~1O()1 f:lt. '1he
mt>tho<! mosl commonly used for the measurement
Acute diarrhoea til
of faecal fat is the titrimetric Van de Kamer I11clhoo. In
,1I.1ull:>. tilC test jn\'Olvt:s a dici conlaining lOO g offal for m
3-5 days Stools coll~ro O\yr 72-96 hours are: pooled
and refrigerated. In children. lhe collco.ion Ixriod is
Diarrhoea is one of lhe mOSI common c.1uses of
morbidity and monaliryin children world wide. \\.'orld-
w;M childhood death sccond.ary 10 diarrhQ(.. a dL-clinoo
<
m
usu,dly 3 days. Children find il diffirull 10 adhpre to a
strioly regirnemro diel anrl therefore a careful dictal)'
from an estimated 5 million lJl'r year in 1980 10 less
lhan 2 million in 1999 l'he decline is .lttributcd to
Z
record is required to Collculate the mean dai1r f..u illlakc.
glohal Improvements in So.1nitation and the use of oral
Steatonhoea is present if morc than 7% of ingf'Sloo £u is
rehydration therapy (Ch. 38).
cxcrt-lt'tl. though infant" under (. months call excrele up
10 15% ofrlietal)' fat due to the physiolORic.ll immaturity
of the p,1I1crcatic :'Ind bili<1ly .~ccrclions, De-pile it heing Basic science
the oilly quantil,lliw le~' of fat excrelion, 72-hour stool
Gut immunity
collection is rarely used in children. as it is cumbersome
,111d unpopular wilh f,uniIiL'S and 1.100r:llory staff .[ he g.1.slrointestinal mUCOSo.1.1 immune syslem protens
QlI,llit:llivc (subjectiw) tt":ts are more commonly used lhe mucosal surfaces (400 11l~ 'mrface area in adults) 173
Table 39.4 Enteral and parenteral routes of nutrition
Route olleed 'Anatomy' 01 Advantages Disadvantages Common Indications
feeding route
[lnro(oydWd
As_
Oral sip '€6ds I'\D l.be ~ Asa~'11C'il'.Y1'lEit'lq
Nooo::t!: 'D I<OIik>iEI ~rne"ts or poor appeue, e,g.
cystIC ftlrosis OohfS G ~
'"
Ol
0 1\.JSOgaSt-c Tlbe pos::JeQ ... .a nooe E8s', to place ald to F'lacerrent ll1CO'Tlklrtabte
CfQl...,-S doowe
CI" ,(j camol t.Jkc fIJI roqu 'O"lEW'lts
0 to :>l:J"Tllid1 relno:e VIsble on lace d.If' '0 problems SO::'CrI!}"swallc-... ng.
1ii0- C¥I bel ..IS-feed fa"

cor"."C.-..eo::e
EaS)- 10 ~ or remo"6
acdde<l'.a!ly
e·9 CIf" fl;'I :rfl;, neu'Odisab r:y
()i.o camot 'iIkfo fIJI roqu 'O"lEW'lIS
Ql Can CQOI "UJUSI feed Ha<.e to et'leco< poSiton clJe 10"ass IY r> gn ~ s ,
£ oe'ore USIf 9 e.g bronctiol~iS, cara ac tl sease
"tl Blocks etlS ", Ct1 d needs cor'th..Jous feeding, ego
e s€":e-e GOA, &lOr! gut
C1l
Nasote JOaI Tube passed \l1!i I'lOSe RoIalrvE1~ rosy 10 PlacemeollJ"'lComtortabie (Jllid CKCCSSl...ety \'Ofl"I IS gastriC
'"
Ol
.Q
10 Jejunum
""~
Difficult to pbce and ollen
has to bo p....sscd under
contCl1tS, e,g, s("'VCfe GOR 01
gastroduCKJcflal dy:;motillly
e
Ql
X-ray scrocning
POSltKln (')lecked by X·ray
Child has pUIll,;rootot'5 (intragastrk::
bxhng cauoos stlillulation 01
~
p<lIlcroat;1
e
Ql Gaslrostomy Tube IOSCflod <.It Discreet Needs general anaesthetic Ct1ild reQlIinng r'nfl(Iium, to long lerm
0
~ """'=PYa Ol1icult to puN oul lor illtJi:lI Jlsert on IlUtnllOl"lal support
1;) suglcalty rrto occidentl)jy Riso<.s 01 iltlCll surgery
C1l <;torra::h ItY:'1L1lj1 Po:; :JOn does flot Locul Jlluet.oos
CI atx::lomInai ,',a11 need to be chec><ed
0.,....-""" -lbe placed Stn! caIy Do<_ 'lood<

"""""""" Urll)$l,,<JI1eed ng 'oute taJa 'y used I"
r:o~... ll\ <l D"tIcL ! "0 O~ :l~ lor ......t..... nsert on chid WIth gastfOO.Jodenlll <tJSI'l'O"t~i
abocml".aI;,aI aoc:ic:ier"aJly Flis.<s 01 " I..... Sli'gEI'Y '~1g ~ :0 long toon
Pos ion does not ocaIlI'lfectoOnS nutnhonal SUODOrt
need to be d1eco<.ed
Parentcml
-~
Intra'<9'"'Ol.IS rU:r-rt on Easy '0 plac:e Short-toon as en (j .....""cse {Po' CMr'l()t be used 'or
g~....a~em1 UTOfT1X:IrA l:!O:lS corrmco fIJI "'"'1'ual '~S. ego
~. _'a 1111 0011 0 aity pos~.St6Qe'Y. (bng chemotherapy,
:and too,.,'Io'o gU:::ose
conkflll 01 parenteral """'''''
S1lOl1.-te'll1 nu:rtlooa SUOPOI'! wl1 e
nutrz(.on a,',aitog CVI... plac:emeol
Usu;;J1ty JlUdoouale to!
full nulrillon.alreQulfements
Ccntral Intravenous nulritlon Secure access NMrif; to he pI:lCOO lJI"der Child whooo OU' cannot be uOled lor
given \I~ central Can grvf! high glur.(}l;f! general aMesthellc full nutrillonolrOQU1ro.llOllls, e.g.
venous line (CVU concentrations and GVI f>APSi~ fl m-'!jm risk IXIS1 SUfgory. dunng CllOmOlllerapy,
lull nutritional short gil!
requ rernents Can be used Iong·term
rrom harmful im-asive org;misms, but olso has to gut-associated lymphoid tissue POS~C<;'M.'S tilt:: In'cessaT)'
suppress immune responses 10 food antigens (up to cdls with \\hiell to seT\~ i,s funnion, but having ne....e r
sevcrnl hundred grams per da)', dcpendillgon age) amI mel foreign allligens. it lacks certain clements found in
Cllllllllensal baneria. I"herefore, even under completely later life. Full maturity is lIot achieved for up 10 2 )'ttt5.
physiologic,Jl conditions, the gastroinh..'Stinal trnd
cUlItdins enormous nllrnb..rs of leurocytt"S diffusely
Water and electrolyte absorption
S("atl('red in the lamind propria and the intraepithelial
companment. or organized in the Peyer's palChes and In healthy adults the small intesune is pres;,>med with
i~olatcd lymphoid follicle~ of lhe rolon. Combined, approxima,ely 8 liues of Auid each day. l11is amount
'hey fonn the bJUf-associated lymphoid tissue (GALf) includes both ingested liquids and gaSlroimestinal
In health 40% of lymphocytcs in the body are present secretion,',. By ,he lime 'he initial Shtres offluid reaches
in the gaslroiruestinal mucosa and Gt\IT.ln~ majori,y the 1leoc:tecal vah'e. only .lbout 600 ml rr::mains and by
174 of ttll'lll produce dimeric IgA antibodies. At binh, the the time this reaches the anus, only about 100 1111 of fluid
05mOlic
Villous
""
•
Stool volum.: Very targe
Responce to
lUling: D'ilrrl'loe<l stops Dlafrtloeil COl1Mues
Stool osmolality: Normal to Increased ,""mO
Ion gap: > 100 mOsmlkg • < 100 mOsmikg
Fig. 39.4 Moin intestinal absorptive/secretory processes

for electrolytes and glucose Fig. 39.5 Summary of features of osmotic and secretory
diarrhoea
remains. TIll: effiricmy of W<ller <lbsorptlon in the sm.lll ,lpical cell. 111C consequcl1Iial increase in electrolytes
<lnd lal),..... inU.'stinecombined is approximtltely99%. in the go'll>! roinlt'stinal lumen not only prC\'enl:> pilssi\'C
Ine nonn,ll absorption of e11..'Clrolyles, glucose and W.lter absorption but also rL"\'crSt.."l> watFr transpon,
wah,'f h shuwn in Figure 39...1. causing \~ater loss into the gaslrointe<llin,lI traci and
In til(> villous cell .'Ja/l< adenosine triphosphatase profu'lC watpl')' diarrhoea 1n(' glucose/'J,l Iran:.porter
(AIVasc) maintains;} low intracellular 1"-:01 concentration, is usually unaffecled in infectious sccrctol')' diarrhoea
thus allowing the 'downhill' t"ntry of 'a, coupled CI explaining the c:ffica{"y of oral rehytlration solutIon.
and nlltrit'nl~ In the crypt cell the low 1'01 concentration
dri\'e'l a carrier in the ba50lateral lllcmhmnc coupling
the 11()\~ of om.' Nil, two Cl <Ind one K from Ihe se:rosal Infective diarrhoea in the developed
companm~nl ;nto Ihe crypl cell. As OJ. rt"suh. CI world
accumulates above its e1ectrochcmical equilibrium
and undcr phy:.iulogical drcumstanct'~ leaks into the Approximately 1 in 50 children in dt'\,t'!oped nalions
ga~troinll'slinill lllmen across a semipermeable apical are hospitdli.tcd for arute gastroenterilis some time
membrane, In health the absorplive activity in the during rhildhood. More than 95% of this risk tKrurs
villous cdl far exceeds the minor M'crt'rion frOIll lhe in the first 5 years of life.
nypls ,mil tIll' net resull is absorption of eledrolytes Viral infections <1ft: lIlost common between G and
<llld IllHriems Waler absorption then passively follows, 24 rnOlllh~ of <1ge, after lI"ansplacel1t:d alllibuJy i:.
m.linly through the intercellular tight jUllctions. cleared and breastfeeding has sloppcJ and lll'fore full
ACUle di;lfrhCH.'iI is the abrupt onset of increased acquisition of )JI'Ult:ni'v"c im munit}'. tn
nuid content of the stool above the normal valu!: of B,u:wrial gaStrO€'meritis is more cornman in the
m
approximately 10 ml/kg/day. Diarrhoea is the reversal
of the llOTllMI 111'1 absorptive Stille. 'Inls can be due to
an o~mOtlc force a("ling in the lumen to pull water into
first few momhs of life 'lIld then agdin in lIchool.age
children. Most baclerial gaslrO€'tlleritis IS due to foOO-
borne IMthogells
<
m
the gut, as seen in sugar malabsorption (rig 195).
'Illis diarrhoea will stop on fa'>ling It can also be due Problem-orientated topic:
Z
to an active secretory stale induced in the cnterocytes.
acute diarrhoea
Secretor)' di.lrrhoe.a continues on fasting. The most
common cause of .secretaI')' diarrhoea is infection, and Karen, an 18·month-old girl. present9 with a
different enterotoxins and inflammatory procl..-:;.ses 2~day hi6tory of non-bloody diarrhoea. She
affect the transpon of electrolytes in different \'v"ays. ·1 he i5 pa55ing more than 8 5tools per day. She
classic cxounple is cholt'ra enterotoxin-induced diarrhOE";l,. 15 pyrexial and vomiting but drinking well and
in which there IS enhanced anion secretion by the crypt
not dehydrated.
cell and an inhibition of the NatCl ch,lrlllt'1s in the
175
Q1. What is the likely diagnosis and the most likely Q2. How do the clinical features help with
pathogen? diagnosis?
Q2. How do the clinical features help with
diagnosis? See'l:lbJe 39.6.
Q1. What is the likely diagnosis and the Vomiting and regurgitation
most likely pathogen? Basic science
rhO" frequE-ncy of pathogens isolated in cases of Though \'omiling can occur due to a wide range of
childhood spor.tdic diJrrhoca in developed counlries stimuli and causes. regardless of the initiation, lhe
is shO\\1I in T.lblc ~?". complex vomiting 'reflcx' is identkaL TIlcre are three
stages 10 \'omiting:
• NmUi'/I- a feeling of wanting to vomit, often
Table 39.5 Frequency of pathogens in acute diillThoea associated with dutonomic efft."Ct~ including
Pathogen Frequency hrpcrsalivatinn, pallor and swearing 'Ihis phase
V_ is ac;sociated wilh dccreast'd gaStric motility and
Aota-.TU& ,"-""> retrogr,lde propulsion of duooellal wlllents inlO
"""""',
Astrol'ir.;s
'-""
'-""
lhe stomach.
kXY'lo'.'i'Us 2-4" • Retelling· a sHong in\-olumary e(fon to \'omit
Noro.1n.Js :NOrwB.-<-ike ... rus l.Jr*nO'Ml during which the glottis rcmain~ closed and there
Bi.K;~.a
is rontrartiOIl oftht' diallhragrn and abdominal
c..r:Pi*X>6r;;ler Jf!I/Jfw
...."
:>-7"
muscles.
""""""'"
~.;.»
3-0"
• VOulIrlllf(. the expulsion of g<1:o.trk contents through
lhe mouth after relaxation oflhe cardia and lower
"""'"
Y6rSIfIla Of"lYOlXWtCl
Oosrrnum cf'f/Clle
0-0"
0-,,,
1-2%
oesophageal <;phincter and sustained comr,Ktion
of the ahdominal muscles.
!'was""
Cryp!osporKium Hl"
The lllt.ochanbm:o. of provocation of vomiting are
<;ul1lmari/ed il1l"igllre He,ll should be nOlcd thai the
G'wC*8 1urT/bJliJ Hl" presence of an anatomically discreet 'vomiting centre'
Table 39.6 Clinical fcalures 01 pathogens

Pathogenesis Predominant site of action Infective agents Clinical presentation
Ooreet cytopathic ellect Pro~imal small Intestine ROlavirus CopiOus wutCfY dorrhoca. Vomitll1g,
Adenovirus mikl to $Over-e dehydrahon; frequent
Calicivirus I~looo malabsorption; no blood in
Norovil"llS (Norwalk-like vin..I<;) Slools
Enteropalhoge!1lC E. CCOi
GIardia
Small "",tOStine VibiJoo choIerae watery dlarmoaa lean be copious In
EnterotoXJgel'lIC E. col< (ETEe) cholera or mG): no blood in stools
Entero-aggregati\oe E. COlt
Ctyp~,
Irwasi';eoess Distal ileum and colon

""""""'"
S'ligalla
[),oS(J1IUY WYy frequmt sll;lCis.
cmrnpt;, pain, f~ <rid oten blood
\1:!rs.01!iI In <;100IS \t<lriable ~ation
Ca:npoj.obac1ar Ccuse m~1 bo protracted
En,e'o-ilYas .,'e £ co'
A"""""
-
~1otcxic.r,- ~dof'de [),oger1tery. aodo'1Wlai C7~. 'e'.-e-.
EnteO'Qhaerr1o.rrog.c E """" ,~EC) blOOd n S'..oo/s EHEC ~ ~
rnay t:e follo,".ed oy~
\.Wilen c S',,,d.OfT'l!
176
,Hcmrones J Problem-orientated topic:
I T_
--\! VestiWlHlcl.,.
regurgitation
J06h. a 4-month-old "OY, present5 with

Sliw:atm regurgitation of 5mall volume5 of hi5 milk
' -_ _•• "'...... "",,> ..._ _--J1 feed6 over 20 time5 per day. particularly in
/ \! Vagal
the hour after hit'; feed. He i5 otherwi5e well
and thriving.
Vagal
afferent
Sympalhetic
\
Sympathetic
affer811t Q1. What is the most likely diagnosis?
( /~ alferenl afferent Q2. What investigations are indicated?
Q3. What treatment would you consider starting?
Q1. What is the most likely diagnosis?

Gaslro-OE'SOph,lgeal reflux (GOR) is thl' il\\'uhllllal)'
u-rilalion or dis~1\SIOO
of stomach I cwl!enum reuograde now of gastric content:. proxinl.1l1y inlo
the OL'SOptUgus When the 1}1stric contellls re,lCh
the mouth, this is termed regurgitation. Hoth arc
commonly seen in in(,\I1\:'. Hoth regUrgitAtiOlI imd
Fig. 39.6 Diagram summarizing the vomiting reflex
GOI~ .He cffortles.~ <llld <In' not preceded by IhlllSe.1.
(CTZ • chemoreceptor trigger zonel
<llld retching The physiology of GOR is sllI1lIll.\lilcJ
in Figure 39.7. Infants .1.l\d children with COil hilvt'
norlll.1l rcsling lower oe'\ophageill '\phinner pressurt'"s
but uelllOIlSlrate spom,lIleous relaxation of the lower
in thc l.lteral reticular furrnation of thi': l11i':dul1a is now oesophageal sphincter. It is 1101 dear \\)u:ther this
question~, but there is cenainly a central process that is a local or centrally lIu:dialtXI proce<;.S Ihe drop
functions as a \'omitinR centre. in the '\phinner prt'ssure precedes a drop in intra-
·!1IC chcmoreceptor triggt'r wne (ClZ) lies outside oesophageal pi!. indicalin!; renux of gastric WlllelilS
the hlood-brain harrit>r in the floor of the founh into the oesophagus (p. 167) 1111" rf'flux of g,lSIJic
wntricle It is stimulated by proemetic "gCllls in thc comellt" into the distal oesophagus is nOI c,lused by
blood or cerebrospinal fluid. 'Iablt' 39.7 Sllmmarl7£S an increase in gastric pressure (as in vomiting), as the
the effoos of amiemetlc medication, intrill{itSlric pressure rcm"in5 unchanged.
Ul
Table 39.7 Drugs used to control emesis and their mechanism of action
Drug group Indication Mechanism m
AnI hiSlMl n9S Mol on sickroess <rod mid etoemothcmpy "C1UOlXl
~"'"
l...ab)nhin8 supp'essIon ~La ant~ e'foct
H .eoeo!.Of 1I'1tdgOf1osm in \OO;lIng cet"'m
<
m
5U:lS~lJIed betlzamides D.,-receptOf t:b:Xadcul thcClZ. In hrgtl Close has
Z
-,
e g. Mctodopramde 5-HT <lC.Nrf'y" 1110 gut
5-HT rocep!or a'l".agonGlS 5-HT --ocepror blockad"-c.-~-c. -IT-""--:"""'--:-.C""':--",--:-,-
-
e g, Onciansetron bu1 possbIy some ~ect in CTZa-d VOrrrlf1!J oontre
Central GABA iTlIU :ior. p1'lXt.Jclng seda:ion end
e,g, lorazepam
Rarei',' usedn children because of e><lrapyramio:'1.'ll D,-rac.J€1)lor block.Jdc lit the ClZ
llicle-ef1ects
Bo.J!yrophmones Ch«ootherapy. gostroPllfC~, GOR D_ ·receptor blockadl'l1l1 me smertc norvous system
sg_ Domperdone
177
Clinical pTcsentaliofl of gastro-uesophagl:<lj reflux
disease (CORD) in infants and children is shown in
pH Table 39.8.
8
,., Oesollllageal
Q2. What investigations are indicated?
OJ 4 Many clinicians recommend a Iherapelllic Hial of
0 pH
trealmen!. rather than investigation. IfGOl{ is clinically
"0 suspected ,md treaunerll will be irnplelllented. even
~ 0
C- with a negative test. then the test should not usually
Ol (mmHlll be performed. If investigations arc indicatcd, then the
"
"C
C
50 invt'slig;nion chosen depends Oll tile clillieal question
asked ('fable 39.9).
,.,
t1l
LOS 25
OJ pressure
.Q Q3. What treatment would you consider
ew 0
1 starting?
~
(mmHg) A general algorithm for treatment is given in Figure 39.8
C
W 50~
and a SllrnnlalY of the "ction of acid-blocking dlUgs ill
0~ Box 3').1.
N.R Cow's milk protein intolerance may mimic COR.
m Gastric 25 and a trial of hypoallcrgenic forrnul<l may be hdpful,
Cl pressure panim];nly when there is a strong f<l1!1ily history of
alapy. Even in families without atopy it is usually
0 recommended before surgical intervelltion.
-
Specific management of clinical
Fig. 39.7 Simultaneous measurements of intra·
oesophageal pH, lower oesophageal sphincter (LOS) scenarios
pressure and intragastric pressure during an episode of
gastro-oesoph<lgeal reflux An infant with uncomplicated reflux ('happy
puker')
Features of excessive 'physiological' Diilgnosis is made on histOly and cxamin<ltion. No
regurgitation ;n infants investigations are indicated.
• N~lural history: improves with age Reassurance without any other specific intervention
• Improves on wcaningand all becoming more is usually sufficient. Other treatment options include
upright when walking feet.! lhickeners. Re-ev<llu<llion shuuld lake pl<lce irSYIllP-
• Iksolution in 80% by 18 months, and in 90-95%. lams h'orsen or do not improve by the time the child
hy 2 yl:'M~. is 18-24 months of age.
Table 39.8 Clinical presentation of gastro-oesophageal reflux disease

Infants Children
ExceSSM3 regurgrtation Vom~ing Vomrting
GrO\V1h faltering Growth faltering
Oesophagtis Ilfitabil.ty with feedings Heartburn

Fcooing refusal Chest or abdorntnal pain
Arching Dysphagk'l, odyr.ophagla
Haematemesis. anaemia HaemalernDSis, anaotnia
Sandi/Sf'S syndrome
Apr.oooJstridor Aspkation pne<Jrnonia

Aspiratioo pneumonia Brorx;hospasrn !asllHTla)
Laryngospasm (apnoea, stridor) Laryngospasrn (apnoea, stridor)
Apparent Iffe·threatening events Hoarseness
Sudden unexpected death in infancy
178
Table 39.9 Regurgitation: investigations based on questions
Question 10 ask Test pertonned
~ - thoro ~'ucIurnl abnormilIit es n:;':'C~C'="""'=_G,-,I,=",=' -;_c:::=m=_=::,,=:::::;=-=:::::==

11' there a de.a-, in ga..~c ElI"I'lpfJ-Ylg? RadorJ.JcleOl<:le gastnc ~ 5tlJ(t..
Does aspraXn occfi C~ X '<Pt. '.1CfeoI'o:)foscoPlfb<n..m ~'I brond1oscq)y,

racioI'u;iOO\ 00 ·m.... scan
C'="""""'=:::;="='.=p'=:~=,",::::;";--------------,W=opy=:::: """ --_-----------------
Are ~Ilic SjffipWITlS causaJlv rootod to GOA? pH rnonitorilg v.ith event recording
Is a hiatus herniil present? &!rium sw",llt>W, endoscopy
Is the 4uun~ty of acid GOR abnormal? pH morIltoring
Is thoro an oosophageal motility dIsorder? Barium swallow, oesophageal ffi..'lI)()ITl(I(ry
-----
Fig. 39.8 AlgoriUlm
Phase I: Basidlile5tyle natments for treatment of
frf<VllS regurgitation
• Postal ng - ody prone efectN'e !r.lt usuaIy not recurmerwjed
.1lIdr.erwJg Ieells - red:.JCeS lfeqlltllCY of regurQllaIion
• ArUclds - May reduce po&slIflg but no e!ft>c:l on signt,c:ant reb
Older~r'I
, A\IOid ca'feIne: choooIate: smoIung: alooOoI
• Reduce 'Io'elQhlll1 obese
• Antacids may gMO' shorHenn symplomaUc relief
Consider trial
of
Phase 2: Prokinetics r- hypoallergenic
• On1)' cisapride has good evidence th.a! effective - but not <NlWItlie formula
• OompefiOOne and metocloprarrude used
Phase 3: Acid inhibition

• H;-b CJtI<.In
• Proton JUllP II1hblors
r""'"
·
haH4
;
)
BOX 39.1 Summary of actIon of acid-blocking th:m GOll investigations shouk! include a full blood
drugs counl, clc<twlytL"'S, liver fllll •• ioll It'SI~, sennn ammonia,
Histamine type 2 receptor antagonists gluCl)sc, Ilrinalysis, urille ketones, reducing subst<lllCCS
in the stool and J. review of newborn scrt.:t.:llin~ tl·~IS.
e Aanitidine, cimetidine
B,uiutll mcal is USU.-llly rt:quirt'd fO exclude an:l!O-
e Inhibit acid secretion by blocking histamine H 2-
l11i'<ll <lbnonnalitit's An upper endoscopy wilh biopsy
U)
receptors on the parietal cell
may also be required in sele<lcd patients. m
Proton pump inhibitors (PPls)
• Omeprazole, lansoprazole etc.
• Block acid secretIon by irreversibly binding to
If CORD continues 10 be suspecled after the abo\.'('
c\'alu.. tion, tre,mnent oplions include:
• l'hickt'ning the fonnula
<
m
and inhibiting the hydrogen-potasslum ATPase
pump on the luminal surface of the parietal cell
• rri.11 of hypoallcrgcllic formula
• Incrc<lsing the nlloric density of the fonnula
Z
membrane • Prokinetic therapy, eg dompcridonc (though no
e....idencc in this situ..ltioll)
• Illlplclnclltingcontinuous nasogastric feeding
An infant with recurrent vomiting and poor
weight gain
An infant with discomfort on feeding
Oit'tt'tir aSSt:ssment is indicated. Poor weighf gain
despite :111 adequate intake of calories should prompt If ocsophagitis is sus!)t'(ted, endoscopy with biopsy is
evalu:ltion for cauSt."'S of vomiling and weight loss Olht'r lhe in\'estigation of choice, though a therapeutic trial 179
may be c,uri..d Ollt Ill .. best trealTnelll option would BOX 39.2 GOR In children with neurodlsability
be acid inhibition, possibly with feed thickening and/
or prokinl'tic :1gl'nt. • One-third or children wllh severe psychomotor
retardation have significant GOR
• It is exacerbated in many by the presence of large
A child or adolescent with recurrent hiatal hernias and diffuse foregut dysmotihty
vomiting or regurgitation • Growth faltering and dental erosions are a
frequent problem
Olherwisc healthy children with recurrent \-Omllmg • All severe sequelae of GOA have a higher
or regurgitation ant'r Ihe agc of 2 ycars usually require incidence in children with neurod,sability
evaluallon, typlGIII)' wilh a barium meal and/or uPIlf'r (recurrent aspiration pneumoOla, blood loss from
endoscop}' with biopsy_ 'I rcatmcnt should be based oesophagitls, stricture formation etc.)
1I1'1On Ihe findillW> • Oesophagltis can resJXlOd to Hrantagonists, but
most require 'maximum medical therapy' With
high-dose PPls
A child or adolescent with heartburn
• Many of these ChIldren Will not respond
I1w<;c patient.. are t1su"lly trcated cmpirically with adequately to medical therapy and '-"Jill requre
Iifeslyle changt'S accomparllt"d by a 4-wed. Irial of an fundophcation
II "·blocker or 1'1'1 • Fundopllcatlon has a high rale of perioperalive
rcr~istellt ur rL"Currcnt SylllplolllS require im-L'Sliga- and postoperatIVe ComplicatiOns in this group
[[on with an upper t"ndo'iCopy and biopsy_
Apnoea or apparent life-threatening events Causes of malabsorption
Recurrent vonutlng or rt'gurgilallon occurs commonly • EllIcropdlhy: los:, of SUrfOl,c <Hca in :.mall bowel due
in p.uients wilh .lpparent life-threatening events 10 il1n"mm:uion of the mllC~ dnd villi damage
(AITE, p. 399), 1100\c\'cr, ,.l.ll ds:.ucidlion bClwffll reflux • Defect in a lranspon mechanism
and apnoea or hradycardia has nOI heen convincingly • Deficiency of an el\:tymc.
demonstr,lIed. In lhe ev.llU;ltion of such patients pIt
monilOrillK lIlOl)' be useful to link intrd-oesophageal
acid with t'\'elllS. Infants with AliT f1l<ly he more likely
Carbohydrate absorption!
10 respond to 3ntireflux therapy when" malabsorption
• VOlllilinK or 01<11 reglllKit.ltion occurs at Ihe time of Basic physiology of carbohydrate digestion
tht' "1"11. (BOX 39.3)
• l'pisodes occur whilt> lhe il1filnt is awake
• ALI E is dlM,lctCI'i"cd by obstructivc "pnoe.l. Carbohydrates in food comprise starch, sucrose and
laclOse. Starch tJ]olerlll"s (amyl(l~e and amylopectin)
~IOSI infalllS rt'~I)()lld In milxilT1(l1 mediral lhcTilPY
Wilh forrnul" thickening. pro kinetic agents and acid
sllpprc~sion. On I}' <l minority require anlireflux surgery.
BOX 39.3 Basic physiology of carbohydrate
digestion
GOA in children with neurodisability Starch 50-60%
Key poillls:He giwn in I~()x 1'1.2. • Digestion by salivary/pancreatic amylase to

maltose and maltolriose
• Maltose and maltotriose:
- -60% hydrolysed by glucose
Chronic diarrhoea and sucrase--isomaltase
-10
malabsorption - ~20% glucoamylase

Sucrose 30-40%
Basic science
• HydrolYSIS by glucose
\13l.lbsorpllon syndromes arc charaGerized by Ihe sucrase-isomalt3se fructose
dssocialion of chronic diarrhoea and failurc to thrivc_
lactose ~20% adults, 40-100% infants
The di:.(mlerl> involvc in.ldcQuate absorption ofone or
• HydrolysIS by lactase -l> glucose
more of Ihe major llutrielll5 and primarily involVt' the
galactose
180 small intestine or Ihe exocrine pancreas
and glucose pol)'mers require preliminary illiralurninal liMy be confused with toddler diarrhoc<l. Diagnosis is
d igcstion by amyla"C. rdcalii I'E m,d 10~ a nd rna Itot nose, usually by sucrose hydrogt'n brt'alh test or a sucrose
TIlt" fin<ll hydrolysis of di and oligosaccharides occurs challenge where explosive walery di.arrhOCd occurs
at the brush border. Glucose and galactose cllIer the after ingestion of sucrose, the stools testing posiliye for
cmeroq.tc via a sodium·linkcd courier (p 175) and sucrose Treatment is with dietary exclusion of sucrose
fruc\()!,c vi.1 .111 em·rgy·independent ·pore'. i1nd to d Icslier extent starch.
'-.l,lIab<;orption of carbohydrate leads to osmotic
diarrhoea. The undigeslcd sugar b then fernwnted in
the rolon. pruducing exces<;ive flatus and acidic stools. Protein absorption/malabsorption
I nitial digestion ofprotein is performed by ga~1 ric pep~in
and pancrc<Hic ellzYllles. 1'1ITllwr hydrolysis of peptides
Characteristic stools of sugar
takt.... place <It the hrush border of the inK-:.tinc, where a
malabsorption
mix1l1re of peptides and drnillO <lcid" <lh' ahwrlwd
• {)<;molic di:mhoea (SlOpS on fasting)
• Very walc~'
• Addic
Protein-losing enteropathy (Il'" J'.I)
• Passed with excessiw flatus (explosiw). Loss ofs.<:run, proleins across the gut mucosa m,lyoccur
either IWC<luseof abnormal or inflamed mucolkll surfiKe
or from abnormal intcslilldl lymph.1tics. \'Ielhods for
Lactose malabsorption
doculllcllling enteric IOS!lllf protein .1Ie available but. in
I he mOSI common form of c.ubohydralc 111,1Iabliorp· paedi.ltric practice. are rarely used. 'nll~ scnllll albumin
tion is lactase mill<lbsorplion. Lacta~ ili found on the is low Alpha,-antitrypsin can he l1lea~lIred in the slOol
brlJ~h burder in the small bowel. Any mechanism and will be eleva led
r.111sing damage to the mucosa and villi of tlte small
bowel (emerop<lthy) will calise st'condilry lartase
dcficiency. 'Ihili call be managed with a laclose·free Fat absorption/malabsorption
furmula or diel. bUI resolves spontancously as the l-at digt'Slion and absorption lakc placc Jll<linly ill lhe
emeropJ.thy resolves. duodenum and up~r jejunum. ·1 he fal colllen! of a
In all humans the <lmQum of l:tetase present per /lonnal Jiet is prcdotnlllanily insoluble lonR-oCll<lin
area of small bo\~·el reduces towards the Illiddle of triglyn~rides Digestion begins in the s{QlIl,lch widl lipase
the first dC'Gldc but ill some ethnic groups it falls to produced in the gastric fundu~. I he fat is then emulsified
a 1L,'d \\here s~mptol1ls will OCUir when even a small by bile ~al .... in the small imestine P,lllcrC•.u1c lil>.lSC
amoum of lactose is inKested This is terlllcd congenital then hydrolyses the triRly(crides 10 l1lonogly(erides
hypoJ.lCtasia and is VCI)' c.ulttltlon. It b ~ililply managed and fally acids. Pancre,llic hicdTbonale is required 10
by rcduring the inge'ition of lactose to that '''hich can nlilintain optimum pll for hydrolysis for the ncxt slep
be 1Oler:l1ed
Congenital glucose-galactose BOX 39.4 Diseases associated with excessive

malabsorption enteriC protem loss
til
l'his is an extremely rare autosomal rL"Ccssi\'c rondilion Loss from abnonnal/damaged small intestinal m
due to the absence of the sodium, gluco.!oe-g.1ladose
trdn<;p<mcr in the emerocyte, Ihe baby cannOI tolerate
mucosa
• Coeliac disease (Fig. 39.3)
• Cow's milk protein enteropathy
<
m
lactose or glucOSE' polymerbdsed fl'L-ds. Prcselllalion
is with life threatcning OlilllOlic diarrhoea. I'mdose is
the 0"1\' diela~' carbohydr:ue tolerated and treatment
• Tropical sprue
• Croon's disease
Z
is \\'ith a fmclose-based formula. • Giardiasis
• Graft versus host disease
Sucrase-isomaltase deficiency Loss from intestinal lymphatics
• Primary inlestinal lymphangiectasia
"I his is a rare aUlOsom<l1 recessive condition with vMia-
• Secondary intestinal lymphangiectasia:
ble prcsent,uion. W<-IlelY di<trrhoea follows ingestion obstructed lymphatiCS from lymphoma.
of ~ucrmt' and 10 a les<;cr eXlent slarch. It therefore may malrotation or heart disease/failure
present ,11 the time of the inlreduction of solid~ ,Itld
'8'
Table 39.10 Presentation of coeliac disease
Classical Atypical
Stool6 Palo Ioo!:-{l, ollonsw. somoI mos ..·.3~'_ 'OJ! pomdgo' Coostopatod
7.W:-.g~:----~W:-"""=_:-~"",,,::-:to lhr,oe .....eil1Jl ga nfgro.v:h fabe
Iron rOSlSlant
AbnofmaI LFTs K'9aSed a1ar'ilO&'"asparml& ;wTIiOOtr"ansfcrasa (ALT:AST)
'Sk=-"--------------~--------;:"""""':-~·~,,:-,_:-~_,
Booe._--,----------------------:c""'--".-'--"c,""""--'-'--~--'--------
0,'_
in fill absorption: the utiliz.uion of monoglyccrides and tin,al mucosa. The condition may prt'M'lll al ,my agt'
f;itty ,Kids by hi1c arids_ TIlis consi~t~ oftheir incorpot<1tion and di<lgnosis is for lift'.
into :tggreg.ltes called micelles lhat are absorbed by the Coeliac disease is due lo·r lymphocylc mcdiattu small
intestitl,ll mucosa cell. The mot1oglyccrides and fatly adds intCStinal entcropathy induccd by glutctt ill a genetically
Me thcn rc-(.~tcrified into triglyccridL'l>, which coillC!>n~ into prcdisp()St.'(1 individual" -Ihere is i ncr~ilsed incidence Wilh
chylomicrons 'Ihe chylomicrons pass Ollt of the cell and lilA 118 and DQ. Incidence is 1 in 100-200.
,lre tr:lnsponed by the Iymphalic system into the blood. t\SSOd,ltiOlls include di'lbeh.:s Illdlitus, Ihyroid
disease, autoimmune chronic aCllVo:: hepatitis and lw-\
deficiency
Steatorrhoea
Sicatorrhoc,l results from the imPilircd digcstion and Diagnosis
absorption of fat due to c.'tocrinc pancreAtic deficiency, • Screening' page 171
lad.. of bile salts or damage to the small intestinal • Definitiv(': abnormal smilll intcstin,al biopsy
mucosa with :'UblOtol ...iIIolls ,urophy (I ig. "\') J), crypl
hYllerplasia .:md incre.lsed inl1J-mmJ-tory cells in
Causes of steatorrhoea lamina propria.
• bocrine pancreatic insufficiency
Wlwn biopsy is abnonnal and antibodies are
- C~'l:>tic fibrosis (p. 252)
positive, diagnosis is straightfol\\';'ll'd. If diagnust.-d at
- Shw;ichman-Diamond syndrome
<lge < 2 years, il gluten-free diet i~ l'c("Olllmcnded but a
• L,lCk of bile salts:
challenge would llsually be performed in Ihe second
- PrilildrY: Byler's discil:'c
half of the first decade, as there Me other conditions
- Secundary: obstructive jaundice, ileal resection
thdl can CdUs\: a similar histologicl! ,lppcarancc. Ille
(due 10 impaired enterohep:llic circulation),
pill if'nt i~ givcll either gllllen,cflntolintng food, or gluten
small bowd bacterial ovclW·owth
powder whilst continuing on <1 glttten free diet. Codiac
• l'vlunlsallMthology:
disc,lSC is confirmed if antibodies becotlle pu~i tive and
I'nteropathy (loss of surface area): coeliac
tht: rq)c,tt biopsy ~hows coeliac di~~:isc.
disc,lSC, cow's milk protein intolcr,mce,
gi(lf(lia~is, tropic;-tl ~PTllt', ,HtloimrnlltH'
enteropathy Management
Co-lipase deficiency ",anaSi:mi:;'nl involves withdrawal of gluten from the diet
(\\·heal!rye.free) under the supervision of a dieliciall.
• "tilurc of chylomicron formation:
- ahetalipoproteinaemid
• [),lmage to imestinallymphatics: Complications
- intCSlinallymph,mgiccta::.ia. -lhere is an increased ris,," of dL...·dopillg ~mall bowel
I)'mphomil and carcinoma of the oesophagus in adult
life ~triC1 compliance wilh a gluten free diet reduces
Coeliac disease risk to that of the normal popul,llion.
Ihis IS a disease of proximal small intestine charac-
terized by abnonnal small intestine mucosa, associated
Shwachman-Diamond syndrome
with <l perlllanent intoler,mce to glutcn (TobIe 39.10).
lkrno'ial of gluten from the diet leads to full clinical this rare autosomal recessive cause of pancreatic insuffi-
182 remission with resloration to normal of small intes- ciency is as::><>ciated with cyclicdl neutropenia and
other Il<lclll<ltulogical abnorillaliti~ I'atienl$ may he Management
devt'lopmelllally delayed, and haw an enlarged liver Trealmem is with a cows' milk protein-free diet, ming
with .lbnornl.11 liver function leslS. 111crl' ,Irc ilssocialed a Clsein hydrolysate as a milk sllb:.lilllle l1,e child
skeletal abnormalities and palients are al nsk of should be chalknged at Ihe age of 2 }"E".lrS, as most
developing haf'm:l.Iological malignancies. will have olltgrown Ihe condition by this dgC. Whil"t
I reatmen! is with pancreatic supplcmcllIs. anaphylaxis is rare, challenge should uSll<llly he carried
oul in hospital
Cow's milk protein intolerance

(Box 39.5) Short gut syndrome
This is due to an imolcr:mcc 10 cow's milk prolcin, which 'l11is is a problem seen mainly in a s111<111 number of
is usu,llly lmn:.ient. TIle symploms may be ronfincd surgically treated infanlS when a large "I!&ment of
to tIll' gilstroilltestinal lraci or there may be other gangrenous small imesline is resected a.s a result of
manifestations of atopy: cow's milk protcin allergy. necrotizing enterocolitis or midgul volvul"". '1 hes...·
Thcrc is .1 30-35% cross·sensitivilY between cow's infa.nts arc depl'ndcnl 011 parellll>r,11 nUlrition
mil k a nd suy,l pl'Olcin. 1n eh ildren wi III ga~tmi nte~tinal (PN) following surgay and Me prone to fluid and
manifestatian.~ changes in the small intestinal mucosa electrolyte disturbance, sepsis frOI11 cenlral VCIlOIl~
may VMy from normal to patchy to partial 10 subtotal catheters and liver damage (PN rholcsl'l.'>is) l'hey
villous atrophy (rig. 193). require 40-60 Clll or non-dilated upper 5111,111 intes-
tine, preferably wilh an intaCl ilcoG.\ecdl v,lIvc and
a colon, to have enough bowl'l 10 :oust,lin llutrition
Cow's milk protein colitis wilhout PN in tht' long term This length of bowel
n,is occurs in children less Ihan 2 yeaN of :lge, who will nOI be sufficient initially, as il needs 10 undergo
prt'Senl \...ilh bloody diarrhoea Often there is a family adaplat ion to increase its surface art';!. 'I his process
histOly of atopy- At sigmoidoscopy there is a colitic can takt: up to 1 y....ar.
appcar.ln,,-c.lnJ biopsies show an illcreilw in eosinophils
in the lamina propria (eosinophilic colilis).
Acute abdominal pain
Investigations Abdominal p,lin of recent onset should trigger prompt
111ere may be an increase in eosinophils in the diaKllosis and active UClunent. While mO'it rhildren with
peripheral blood film. IgE may be elevdl,,->J. Patients i1rute alxlominal pilin ha\y iI self-limiting condition, the
may It,iVe ,I IXJsitivl' radioallergosorbence test (RASI) pain may herald a serious medical orsutgictll clllergency.
to cow's milk protein and a pOSitivc skin prick to Primary CMe aspccls are discussed in Chapter 2 't.
cow's milk Ilowc\'er, cow's milk PIOleill iJllolerance
is oflen prc~l'nt whl'n all Ihese [esls are negative, so a
tht'r'lpl'lllir tri(ll is indicllcd when there is sufficient
Problem~orientated topic:
clinical suspicion.
acute abdominal pain
BOX 39,5 Manifestations of cow's milk

A 4-year-old Iwy, Callum, is admitted to en
Intolerance the acute a~fifiment unit with a 24-hour m
Gastrointestinal manifestations
• Diarrhoea
history of rleht upper quadrant pain that is
WOf5e on movement. On examination he has
a temperature of 39 C and is grunting. He is
<
m
•
•
Vomiting
Failure to thrive
tender in the rlel1t upper quadrant but has no
signs of peritonism. His haem09lobin is 11,6 gldl,
Z
• Acute colitis
...mite blood count 23 x 1()911. l18utrophil618 x
• Constipation
leJ9/l, p1ate1etfi 465 x 10"11. C·reactNe protein
Non-gastrointestinal manifestations 135 mgll and 5erum amytase 90 lUll.
• Migraine
• Eczema Q 1. HO\'J would you assess this child?
• Asthma Q2. What tS the most likely diagnosis?
• Anaphylaxis
183
BOX 39.6 History and investigations In acute Acute appendicitis (Ch. 1S)
abdominal pain
InitiJ.IS}'mplomsareperiumbiliGiI p,lin. naUSi'a, \"Omiting
History and ,lIlorcxia. TIlerc may be as5(Xialoo flWJuency of
.39 • Pain: miCluritlOn. OassiGilly the pain then iJdia(cs to the right
- Site. characteristics, exaggerating and iliac foss.l.. though with a retrOCiIl.."G:l1 appt:ndi'( Ihe pain
re!'9Vlng factors may be morc laleral and in Ihe flank Ihe p.:uiem will
- Young child: unexplained screaming haw a 100\"-gr.Kie temperaluft' and localized perilonism
• Associated symptoms: in the right iliac fossa. Once (he appendix h~ perforated.
- Diarrhoea, vomiting, urinaJY, menstrual, rectal there is d high ft.'\'t:r, gmllling respiration and generalized
b1eed,ng
signs of fX'ritonitis Ihe appendix Illay JX.'1foratc 10 form
• Trauma?
a Ioc.llized abscess when a mass i~ pllipahle in the
• Past medical history
right iliac fu~a. The diagno~is i~ usually based on the
Examination clinical present:ltion. though an elevated neulrophil
• General: white COUlll and C.reanivc prOldn may be helpful in
- Temperature, signs of cardiovascular instability, supporti llg (he diagllosis. The di.1gnosis C.111 be difficult
respiratory rate. rash. joints. lymph nodes in younger children, who are usu<llly mort: ill ,md havf'
• Abdomen: generali7..cd peritonitis at pn.:Sl:I1I:llion as a resuh of
- Signs of peritonism, abdominal mass,
pcrfor,ltiOII. Treatment is surgical
Intestinal obstruction
Investigations
• Blood:
Acute pancreatitis
- Full blood count, urea and electroly1es, liver ACUle pancreatitis results frolll .\uLOtligc~tiull uf the
function tests, amylase
pancreas.
• Urine:
Causes of "CUlt' pancreatitiS in childhood arc:
- Urinalysis for blood, protem and glucose;
microscopy and culture • G.1l1SlOnes
• Radiological: • Congcnilal abnormaliti~ofthot.' pancrt'as:
- Plain abdominal X-ray, chest X-ray. ultrasound pancre,llic divisulll
and CT of abdomen • lfauma
• Ilcrcditary (autosolllill dominant, incomplele
penetration)
Ql. How would you assess this child? • Ilypercaicaemia
• Ilyperlipillacmia.
See Hox 39.6.
Clinical features
• Pilill, upper ,llJdOlllinal, suddt'll onset, continuous
Q2. What is the most likely diagnosis?
and ill1t:llse. radiales 10 bark and flank. The severity
The c1inic,!1 algorithm shown in Figure 39,9 is helpful is rel;:tted to the degree of perttOl1iSIll ilnd is caused
in ,Ill: Ji,lgnosis of acute abdominal p:lin. by liberation of enzymes .\lld hMll1orrhagf'
Fig. 39.9 Diagnosis of acute

PeritonLSm
__---!.N~~~--l
abdominal pain
"'~
Signs 0' otstruclioll ...
Surgical lnua.abdominal Sysllmlc

• AppefldiaLs
• ,rllUSSiISCeP:io1l
'BaclenaI~
• IIeseI1 Ie ric adenilis
• Pet. c ifllla'T''TIalorydsease
• Umary l'lld Dedxlns
I:=:----
•Sicode OI! disease
• \tlI'•..iJs
'1IlC8l"<:ercIle(! helr'E
""""'""
·• Ct101ecysti1Js
• Pej)lJC!.kef • kllla'lVl1lltory bowel d S€iISe
• Henoch-SchonlOO purpu<a
• Gast"OlllllelIlS
• PanaealJlrs
184
•
• \'l>lIlllitl.i:: SC\'cre, bilious and Illay be fatXull:'lIt a" a If thi" fails or the child h.lS had symptoms for more
rt."Sull of par,dytic ilt-us. than 24 hours. a laparotomy pillS surgic.11 reduction is
• (lI"i,'ill findings: fever, signs of cardiovascular indicated. [lHllSSllM:eption may be recurrent.
instability (lachycardia hypotension), pcritunislll,
ileus; there may be all epiga~tric mas"
Volvulus
Iht' diagnosis is confirmed by an c1C\"lted serum
.lmyl.lsc. Volvulusortwistingoccurs when a long mobik loop of
bowel revolves around its UWI1 mcsell1ery. Volvulm of
tile lnidgut from rnalrUl<lIion i~ most common during
Management
infilllcy bill may occur at any time in childhoOlI. II !Il,'y
• Ik~uscitdliofl
be intermittent or Illdy C,IUSC ischaemi" ,md inf:lrction
• Nil by moulh
of tIlt.: gut. The symptoms are abdominal pain .md
• Nas(}Jo':,lstrie aspiration
bilious vomiting and there may be associat~d fullness/
• lntr.t\'~nous fluid~
abdominal distension. A pLlin abdomill,t1 X-ray m.lY
• An.llgesia: pethidine
show d double bubble ,Ippearance due to .lir proximal
• Antibiotics
to lhe obstruction, though there is u~udlly .\ small
• -..lutritional support: tOial parenteral nutrition or
amount of distal dir. The di.lJo:lIosis i" confirlllt'<1 with
lejunal feeding
an upper &-buointC5tinal contrast study which will
Once the palicnl has r('(Overed. the chIld <:hould dClTlomtr:ne Ihe ligament of lreitz to Ix: ,tIJlIoflnall}
he iIlVt:Sligau::d for an underlying cause. If the paliellt placed (it should lie to the left of the midlirw and
has gallslOllcS, cholecystectomy should hc Ulldcrtaken abovc the duodenal bulh) '1 re.ltment is SllfAiC.1l,
whell the patient is well
Blood in the stool

Chronic pancreatitis
(Sce alsn LIl. 2S.J
HepeMed atLlcks of pancreatitis cause the P,H1CH'<lS 10
become .moph ie ami fihrol ie. '1 he duclS art' obstnleted and
dil.ltt.'d .1IId cysl.like cavities dewlop. Exocrine pancreatic Problem-orientated topic:
insufficienc}' may occur. In dlildren. this is u<:ually due to bloody diarrhoea
hercdiL1ry pancreatit i". 'I hey either have iC'rurrem botns of
arule p.lIlcreatitis or m<J}' develop inUaCL1.ble pain. Mute Ryan, a 2~month-old l:1oy. presents with
episodes are mana&---xI with analgesia and intrawllOUS bloody diarrhoea pre5ent for 2 weeks. His
fluid!>. Allark.. may be preventi'd with antioxidants and mo'ther is well except for poorly controlled
p,llIcrt;":lIic supplements a6thma. He i6 formula-fed and thriving.
I'ancreatic pleural fistula is a roue colllplicdlion. The
child will J~velop a pleur,,1 cfTusion that ha.~ a high Q \. What diagnoses would you consider?
,llllyl,t<;c (Olllent.
Intussusception Ul
l'his results from the ilwagin,llion of onc p,1fl of lhe
Ql. What diagnoses would you consider?
m
bu\~c1 imo anOlher (u"ually the tenninal ileum into
tht' caecum) This re5ulls in the blood suppl}' to that
Lower g.1strointCSlinal blceJinK (originating dist.ll 10
the duodenum) is a comrnoll problem in p;'ledi.1trics
and. although mOSI GlUM'S ;'Ire self-limiting ,lIld Ix:niKn.
<
m
part of Ihe bowel being se....erely compromised. It am
occur clt allY time in childhood but the peak incidence st'rious pathology can present this way. TIlt.' 1Il0S1 likely
diagnoses based on histUl)' of til\' blertling and age of
Z
is l}('t\~eell 3 <lnd 6 monlhs of age following either
an upper respiratory infection or gastroenteritis, or the child arc shown III lable 19 11
coinciding with thc introduction of wlid" when the
Peyt'£'" patches become enl.lrged and ad ,1S a lead
Anal fissure
paine Thechild has episodes of pain folluwed hy pallor
and mar pass blood in Ihe slools (redcurram jelly). A An.11 fissure C.luses bright ICJ blood Oil Ihe olilside
mas" is usu<ll1y palpable though the diagnosis C,Ul be of stool. somdimes dripping illto the toilet and on
confirmed with an ultrasound scan (doughnut sign). lh~ luilct tissue Usually lhere is a histol)' of pdSS.lgC
!'reclunent is with either all air or a barilllll enema. of large constipated Siool and pain 011 def,!t'(',lIion 185
Table 39,11 Common causes of blood in the stool
Most likely diagno:!e:!
Desct"iption 01 likely amltomieal Birth-1 month 1 month-2 yellr:! 2-10yeanJ 1o-16years
bleeding per rectum source/cause
39
-
Brlghl red blood or llIC1um Wamio K def:cil:r1cy Anal fisslxe
ootlttng forme<:! 9:001 Analli:Ssue ""'"
Anal lisSU"e
'BIood;;::::::,:,C~::::=---;""""'::;;-;::-,:'oo:::'.-;::-----;Food=O,:_::::,,,,:C<rl:::;C"';-'FCood:::;·:_::::,,,=_:::;C,o-wlnlect.OU9 Infectious enterocobs

V:anTl K delJCiency lnlectK.Jus €I1terocol1:is in1\arTvnato", I:xlwe
Nocrot zWlg eme'OCQlllS Inl'arrmato'}
enlcnx:o :IS HfSd15pru'195 bcfflel disease ''''''''
1-Wschsp'U'19's enrenx:o lis
enlcnx:o :IS NecrO!JD1g
eot€'OCO lis
Su-g:<:al ca...se'
ootal sr"l8I ba.YElli
""'...,
Oll'9ricul.lTl
----c=,-----,----,----,------
prour ill colon ~:iOnC'yst

VO.Ui.;S
'[he fissuft" IS generally posterior and obvious on anal Polyps

inspection Ircalmcm is usually by stool-sohelling
agCIll.5 Polyps are ,l relali\<ely common cause of per rectum
bleedin~ in children under 1 yeM.... Rlt-'t-'ding is typi-
cally bright fl.'1-I, often on the surface of the stools,
Food allergy small in amoum ,llld p;\inless inely percellt of dlild-
Bloody diarrhoea can be the presellling feature of hood pol}'Ps arc h,ullanomatous juvenile polyps,
allergic cntcnxolitb., most commonly due to row's whidl arc beniKn, generally l>ingular and situated in
milk and/or ~oy protein.llw child is usually lf'sS lhan 3 the left colon. 'I hey are confirmed and remov-cd at
months old and. though Ihe infant can hayc associated colonoscopy
vomitinp; and become dehydrdlt.xl. the blood}' slooh
;He often tilt:" isoliltf'd concern in an olherwise well
baby with normal weighl gain. The child should be
Haemorrhoids
given il hYPo.lllelgenk formula. u~ually a hydrolysate. Ilaeillorrhoid.'> Me rart' in inf,mls and children, and if
pre~etH, are uSH:!lIy duf' 10 pOrt:tl hypertension. TIley
Infectious enterocolitis do occur in constip,Hed ,ldolcsccnts, causill~ hlct'ding
during defat..'Catioll with blood 011 lhe slIrfJ.ce of the
IIloody stools can occur in infections due 10 Silimonell.l. slOol or the loilel p<lper or dripping inlO the toilet bowl.
ShiRt'JlII, Gmrp)'!t)/IiIt"ler jeililli. Yi'rSilJill ('/Jlerowlilial, ·1111" child may describe something 'coming OUI' from
E~dlCrithill wli 0,7 .lIld Elllrwu'I'V(j lli.,wl)'linL l'scudo- their anus durilll( defat.:ra1ioll <lllll lhl' IMill is typically
mcmbrdllolls colitiS duc 10 (..{oslrirlmm (iifficile should <Idling in Il<IllHI' ril11wr lhal1 sharp as described with
bc considered in an}' child having received broad- fissures,
Spt.."(lrUIll ,1Il1il>iolic.'>. Slool cuhures and 'hal' slOol... for
OVd, cysl~ and p,H:!... ile ex;>.minalion (and CI (JiJficile
toxin, it indicatcd) arc mandatory in any child with Inflammatory bowel disease:
bloody diMrhoe.1. Crohn's disease and ulcerative
colitis
Meckel's diverticulum
Crahn's disease is an inflammalory condition affecting
lliis typk<llly present... before 2 p:drs of age with the any part of the dig£"Sliw Iran and involving the entil"{'
painles~ IM"Silgt' of iI Iilrgt' volume of dark red blood thickness of the boWE'l wall. Isolated ileal diSl?ase is
in an otherwise healthy child It is lwice as common less common in children allll Crohn''l colitis is lhe
in boys dS girl.... commonest diSlrihulion .symptoms include abdominal
pain. anorala, weight loss. poor ~rowth. diarrhoea
(which mayconw.in blood and 11lUCUli) and fever. Posi-
Intussusception
lh'C ph)'-sic.al findings may indude anorexia, thickening
186 Sec pa~c 185. and fissuring of the lips (oro f:!cial granulomatosis).
BOX 39.7 Causes of an elevated bilirubin
Hepatic Unconjugated
,n", • Increased production of bilirubin:
-
Hepalic-f'''''':-;'';'';:,.,.<.
l-lepatocytes
""".
~.,
- Haemolysis
• Failure of transport of bilirubin 10 site of
conjugation within the liver celi:
Gilbert's disease: autosomal dominant. mild
Jaundice, Increased with intercurrent Illness,
dehydration and exercise; otten vague
abdoffilnal pain and general matalse
Fig. 39.10 The analomy of the liver lobule
• Defective glucuronyt transferase activity:
- Crigler-Nauar syndrome types 1 and 2:
Type 1: no bilirubIn uridine d phosphate
dubbing, alxlmnin,t1 IIl.1SM'S, peri-anal fis.surcs and glucuronyltransferase (UOPGl); risk of
skin lags. Hlood 1(>515 r",~al nidence of chronic kernicterus; treatment WIth phototherapyl
hver transplanVauxihary transplant
inflammation (e1C'V.Jled ESR. eRP and plalelet count
Type 2: partial defect; treatmenl nol usualty
anti hypoalhurnimlcmia). Definitc diagnosis is based. required
an upper CI endoscopy, ilro-colonosropy and biopsy.
Treatments include diet..uy measures (elemental and Conjugated
polymeric did), steroids illld immunosuppressive • Fa lure 10 transport conjugated bilirubin to bile
agents. ~urgery and resection of the affected are.1S m.1Y canaliculi:
~ Oubln-Johnson syndrome, Rotor's syndrome:
be nttded particularly in se\"ere growth failure or
both autosomal recessive
suinuring disease.
lIkf"r:niw colili'i: IS confined 10 Ihe large bowel. • Intrahepatic and extrahepatic obstruction of bi~e
flo\'!:
Symptoms indudediarrhoea with mucus, reel.ll blMing
- Intrahepatic: drugs, viral and autoimmune
and tencsmus. DidKlIosis is bas<.'d on colonoscopy and
hepatitiS etc.
biOpsy In·,ltmenl;'i: inili,llly \.,.ilh sleroids (sYSlemic and - Extrahepatic: mechanical obstruction
local) and:> .lminosalicylic acid Colroomy +{- ileal (gallstones, extrahepatic biliary atresia and
pouch is rL'SCJVL'G for failure of mL'diGlI treatment. choledochal cyslS)
Liver disease
Basic science Other indices of liver function
(Table39.12)
Tlw liver is divided into lhc rilolht .lntl left lobe. which
;He in Ilirn dividt'd irllO t'iglll srgmt'llts. I~ach segrnenl Aminotransferases
is divided inlO lobules wilh a central vein, In the spaces
• Aspan.1te (A~ I')
lwtwf'rn til(' lobllirs ;m' br,Hlches of thl..' ponal vein.
• Alanine (AU).
hep"tic :trtery and hile dUCI Lm,llkuli (hg 39 10).
111e functions of the liver include formation and Thes!' ,lTe present in liver, he;'!n and skeletal muscle, fn
S<.-'(Tl..'lion uf bile. Klycogl..'Il storagc and metabolism. and arc elevated if there is hepatocyte damage. m
ketone body formation, d~loxificatiu'l of toxins and
drugs. and Jllalluf,lCture of plasma proteins and coa-
gulation factors. ","'hilst biochemical liver function tests
<
m
Alkaline phosphatase (ALP)
rdlt'C"t the <;t.·vt.'rit}, of hepatic dysfunCiion, they rarely
provide diagnostic information of individual disease- ALP is found in liver, kidney, bone. placentd and intestine. Z
Elevation of this en/ymc in liver diS("ase inJimlt-'S bili.\fY
epithelial d.lrnage, cirrhosis, rej«tion or osteopenia
Baseline investigations secondary to vitamin D dcficiellC)'{nl.llabsorptioll
Biliruhin is n.....u ly always devil ted in liver disease;
when deteCled in urine it is always abnormal. It may
Gamma-glutamyl transpeptidases (GGT)
also be elcviuoo in any condition causing haemol:"'Sis.
Causes 01 dcvatLxI serum bilirubin are shown in GCf is prCSClll in biliary epithelium and hcpauxy1.cs.
Hox 19 7. and increased ill many forms of liver disease. 187
Table 39.12 Significance of abnormal investigations in the jaundiced child/child with abnonnillliv8l'" function tests
In~tiga1ion Signif"lCance
""""""""----~
~.jtl., l..lncon_ogaIed ~ SU!J99St$ t".JOOlOI:,"Sis
Cor"PJa:ed ilcrllrase suggElGls ~tlC or post -heQaX; disease
==_
-",;o;;TC.AL:;;-;TC:..,...,..==C",,::;-;,=~=,~,,=~=.,=,.,.=.C;GOG;;;;':----,EO:••:~;;",C;-:dwilO.OC" ....
AbJ..,...,'!otai p<otens AiburTWl k:M' n mon.c "lief d ~~.IO'.., pro,efls el8Yaled on a.t:olnriSl9 hepatit S
serologY' Ide« Iica:ion of viruS caus "l9 "'--:-=c:---:-=---:--:--.,----~--:-

_-c.,_'
'TFU'lOlOgf ncreaseo 19G. +"6 artl-.df!.v ani lX:ldeslANAlItyoe 11. tve rver. ~. rncrosome
ant boOBS IJ<M) (type 2) In a.....',..,·.lUl9 chroric actr:e heD<lNoS,:-:=====:::::=:;_
Cer\.l~miIldec'eased. 2tl·11CU ~r.ary copper pm- alld poot-l19rdal'TWle noeased
III W son'S 0 sease
Synthetic function of the liver Autoimmune liver disease

• Albllmill. If JecreaseJ. indic<111:~ chronic liver !\uloillllllunl:' chronic ,1C1h-e hepatitis is a chronic
Ji~C.lM::. inflammatory disorder affCClil11o\ the liver. responding
• If abnormal, indicates significant
CO<lgjj/IIII01I. to il1llllunosuppression. II nMy coexisl Wilh olher
hep,llic dysfunction, either ,\Cute or cbron ie. autoimmlllledisorders and the male: female ralio is 13. Il
• Hloo:l gllle,'Si'. A finding offasling hypoglycaemia marprcsent as hepalitis, fulminant liver rililure urcllronic
in ,lbsence of other causes suggeslS poor hepatic li\'Cr diSl'lISC (often despitc a shan history) -I he di,lgnosis
function, particularly in llCute hepatic failurc. I~ rnnllmled on liwr biopsy (interf'lcc hCPoltitis).
IIl\'eStigations lypically show raiSL'<.! 101<\1 proteins and
IRC, antinuclear anlibody (A 'fA) ,llId smooth muscle
Infectious hepatitis alllilxxly positiw (classed .15 rypl.' 1), and liw'f kidney
Causes microsom.11 (I K..\1) antibody posili\-'C (Iype 2). I"reatmenl
• Anile viral: is immunosuppressive. with steroids il,ld ;v.alhioprim:_
Hepatitis A. B, C (0 ,lIld E) (Table 39.13) Sclerosing cholangitis is an autoimmune condition
- "lea~l('S predominantly affecting intra- and c.xtrahepatic bile
Rubella ducls, lcadinK to fibrosis dnd ll~ually associ.ued wilh
Erythrovirus 19 (pdf\·oviru!> B19) ulccrdlivt: colili'l. As there are similar aUlOantibody
Ilerpe'l ~irnp1ex IYI~ I and II fealures 10 type 1 autoimmune hepoltitis, there is probably
Varicella zoster some o".....rlap belwecn the two (ondiliollS.
Cytomegalovirus
EPSlci 11- Hilrr virus
II1Iman h.,rp"s virus typ" (, Wilson's disease
Yellow fever Thi~ is a rare :\lllOsomal recessive disorder. There is
• Nun-vit.'ll an accumulation of copper in liver. brain (causing
leptospirosis beh.1\'ioural changes and eXlrapyramidal prohlems).
LI51,'rill 1II0IlOt.."I~I"u'S curru:a (Kayst'r-Fleischer rings) and kidneys (ren.ll
- I"m.opl,lsmosis tubular problems, viLamin O-rcsistant rickets). The
- Ilydalid dis.:::aSt'. genetic defect results in decreased sylllllt:si'l of copper-
binding !)folein ceruloplasmin and dere(livf" copper
eXrTelion in bile. Children present mostly under 12
Hydatid disease
rears wiUl any form of liver disease or occasionally
This is caused by Et-/lj/lococ•.-II$ (I.lpcwoml), whose inter- with hdemolytic anaemia.
lln:diate hO':lt is sheep dnd dogs Following ingcslion or Inc dl.1gnosis is based on measurement 01 serum
0\<1 hy humdns, the embryo develops and peneuates copper, bUI this COIn be unreliable (usll<llly decreased,
the stomach w.:ill, reaching the livcr via the parral \'Cin. occasionally normal or increased), decreased ccrulo-
Cvst!> d(.,\"CIop in Ihe li\'Cr dnd lungs. I ivcrC)':>ls ill1:' slow- plasmlll; increased 24-hour urin.uy copper after D~
growing, giving asymplOmatir hepi110megaly penicillamine; and increased li\'cr COPI~r,
'I re<llmen! is either by surgical excision, or with I'rcatment is ...... ilh pel,kilbllllnw to chelate and
188 mebendazolc for 3 months. excrele excess copper, and "inc to decrease absorption.
,.,..
Table 39.13 Clinical features of hepatitis A, B and C
Virus
RNA
..-
Incubation
30 duys
Transmission Clinical presentation Treatment
Hepal lis A
""""'""" Acu:e *'ess ....,lh 1lilIUSll6.
alxlolTl'M P<W1. J~tn:Ilce
;n:l hopatO'Tlfl(Jaly
~.usnormaly
:.ltlIflm:'l9 ilncss
.", IgM
IJery rare c:.ause 01 a; j'e
or,"8r!allure. rare ~EI"Il
..-.-
_"B DNA ~laoda'1S Trcnsluslon bkXldf Mayo be a9:)I!1l)t~'oc inTerferon 8l'ld Iar't'WI.One may be
bIood~'
~-
'"'"'" "Xli ClaSSiCal Iealaes of lICUle
NeeCl estd<. ~i r,epaJ tis. fu '1'iniInt heplr..IC Pnr.-eotlOn.
'"-
pregnant ,·.tl'fle/'1
-- ' '.-
Laletal so-ead In faliu-e 1-2% 9CrlleOIId lor IlllOa'JI S B svtace
..-"
chn:nc canege 8abIe5 ~ aI t-esAog • -e mothers
''''' _a"""" """'"""""""'"
3Q-5O'l'(,
''''-
...~ nsk of hepalooellJar " rnoItWI' t18s ~ B e iIrt9I'L
can:.:noma In IaIer ....
......
-
+~baby~~
-- C RM
"""'do" Translusol biood.'
blCXXI proWcts
\lertiCallransrrossiclr1
'"
Rar9lV seve inIocl:oon
50"H
trver dsease. deso e """""
Il'ICrly t'.a-. rg f'lOmlal 111&I"
U1ction tests. ald
w,wIerc:Ir1ar1d rtla\.',., n
cornbnaloo may be of bw1e'it
prO!JeSS (0 orrhosi:$ wCl

~of~"
......e...:O'1Il1n later Me
Linr tran"pl,lIIt;ltion is re;erved for acute liver failure • 1'rt'I'f'nI s,/srrolllll'"llllll />/t'{'llmg: It z·blockers/PI)ls.
;lnd decompens.11E'd li\'er disease • I wl'r protl'nioll f\,. aCetykYSleine 150 mrJkgl24 hr.
• TrtlllsJer 11'llm SfllUiliu,1. to supr,lh:gion.ll liver
transplanl unit
Acute liver failure
Acute livcr failurc is rare in childhood dnd has ,1 high
morIa lit),. It ;s ddillt_'_1.1 as onsct of clKcphalopalhy Cirrhosis and portal hypertension
and coagulopalhy within R weeks of lhe onset of liver
Cirrhosi~ is a pathological diagno~i~ tll'!l includes the
disease. The most COlllmon causes arc viral hepatitis, combination of fibrosis and fegener:ttivc nodules. It
undefined fllctabol ic conditiuns .11ll!, in the older child,
is the end result of many forms of liver Jiscilsc .md
deliherate overdosage of paracetamol. causes ponal hypenension, a-.ciles, distended veins on
lh;~ child presell15 with j.1undice, encephalopathy
the abdominal wall .1nd oesoph<lgeal varices.
and hypoglycarrniil.I11+.: signs of t'IICt'ph,llopillhy may
initially be subtle and include drowsiness, night-time
Ul
wakefulness and periods of irritability and aggression. Complicauonsofportalhypertens~n m
Inilially, thc biliruhin Iluy 1101 be dcvalt:d but trans-
aminase~ afe wry high, coagulation is abnonn:ll and
• iUcili'S: results from decreased albumin and ~odillm
retenlion; treated wilh diuretics and albumin
infusion
<
m
anuTIoni,1 is ele....ated
Principles of management of acute liver failure

• 'Irpe:rspli·m~lIlr dl'('reased whilt' cell count and
platelet (OUIll
Z
• HrrltJg/)"u/e/llill maintain blood glucose> 4 mffiol/I • Oesoplzll.'.:eall·llrile~. lIlay bleed
with H~ dextrose • Lncepi"l/opmhy: often precipllOltOO by
• Pr(,l~m sepsis broad spectrum antibiolics/ gaslrointestinal bteed/sepsis/rE'nal failure.
antifung,lls
• C0<1gI110r'<I/Jr)~ (orrt'CI with vitamin Ii: and fresh Management of bleeding oesophageal varices
frozen plasm.l • IlesUKlfll/lOn: blood transfusion, aiming for
• Wel.rill Ot"llt'1fl<l. nurse head up. restrict fluid to haemoglobin of 10 g/dl
60% malntenallce, VClltilatiOIl for ellcephalopathy. • .\rill supprmioll; Ilyblockers/PPls 189
• Lowl'rill.~ poual blood J./fe~HrI': octreotiJe umbilical venous cdthctcriZdtion, olllph<llilis <lllll
(vasopressin analogue) innhmtinn with tumour, The ponal vein is not seen
• LlldQscoPY: sclerotherapy or banding of varices on ultrasound and is replaced by tangled enlargcd
• ResislillJl Ii/ceding liver transplantation/shunt vcnous collaterals: cavernous transformation of the
operations. portal vein/portal rilvernomil. l'rc"entatioJl may be
with haemorrhage from oesophagc:l1 varices, an
enL:Hged spleen or hypersplenism If gastrointestinal
Extrahepatic portal hypertension! haemorrhage cannot be rOlltrolkd endoscopically,
portal vein thrombosis blockage em be bypassed by a graft, usually taken
from the external jugular vein: mcsorex shunt.
Blockage of the portal vein may result from a wngcnital
abnormality of the ponal vein. blockage following
190
Janet M. Rennie
48 Neonatology III:
Neurology, haematology,
metabolism and sepsis
Neurology 364
Haematology 368
Metabolism 373
Sepsis 376
..
• Be able to describe the features of neonatal encephalopathy
• Be able to explain the mechanisms of brain Injury in fulHerm and preterm infants
• Know how to initiate the management of neonatal encephalopathy
• Know the common causes and management of neonatal anaemia and
thrombocytopenia
• Be able to discuss the differential diagnosis, investigation and management of
haemolysis and jaundice in the newborn
• Have an understanding of glucose and calcium metabolism in the newborn
• Have an understanding of the pathophysiology of sepsis and its presentation in the
newborn.
-
m
C)
Neurology
Basic science
Brain development
{examples .1I"e
lissell("~pllllly).
Cerebral blood flow

schizellc~phal}', polYlIlicrogyria and
:I OunnR intrauterine and cMI}' neonatal life the baby's Ccn:bml blood flow (CBI-) is Il'lalively tow in the new-
-t brain hi dC'oeioping e.'{tremely fa~l. At 10 .... eeks the born compared to later in life and the maior detemlimllli
hrain is almost completely smooth, and although of CBF is blood pressure. Other faClors thai affect CBr
neuronal formation is complcte myelination has nOl arc arbon dioxide con«lltmtion and intracranial
begun, nor has glial ,ell differential ion (llg. 481) pr~sure (ICI~) Babies are not as good as older children
In the Sffond and third lrimester the rapid pacc of at 'aulorcgulaling' CBF; auton."gulalion means that CBr
development continues. with the fOfludtion ofsulci and i~ kept mnSlanl owr a range of blood pressure, thus
gyri ami continued organi7~lion of the celllmi nervous prolooing the bram from fluCluations ill blood pres-
S)'Slem (L"~). IllIerference: with the nonnal proceS05 sure. Theconccpt ofl055 of auton"glilalion is imponant
of development can occur and modern Ilcuroimaging in ul1J~rMallding why brain injUly occurs when there
364 has made the diagnosis uf !ouch di'iOrders much easier is c('rebral oedema (lCP) and in prclerm brain iniury
Milestones of development In letallneonatallife
7 8
,
~~~~
months
25 35 40 50 100
days d<1ys days d<1ys days
('-\~ $
"",,+---'---,--t--------<
Q
Organisation
Gill, oe d flerent.aaon
l'yeII'Ia'iM
Ca1<O..."
I
10 15
" "
Jl)
Weeks gestation
" 40
Fig.48.1 Milestones of development in relaUon to the neonatal intensive care unit (NICUj
• Cxcitoloxicily
• C}'tokine damage,
Some cell:'> appe,lr 10 commit cell <iuicide Capoplosis')

cell death because of upregulalion of genetic triggers; others arc
In'lammalJon '- damaged by cxcitoloxicity JlIC to gIUt.IIll:I1C rdelse. or die
from free radic,ll oxid,lliw 'llfl:':'>S or from cytokine release
O~idalMl
as a consequence of inOamm:lIion. Understanding of
stress the on~oing proccss of cell JCath and dtllll.l~l:' bas kd
to an understanding of a 'thcrallt::lllir window' I'lsting
Hours some hour.; immediately :'lfter llle injury There is hope
thal appropriate inten'cntion dUl'ing this window
can ameliorate ,\Ollll~ of lilt: ongoing (lamage, and
Fig. 48.2 Mechanisms of brain injury in the term neonate

(From: FetTiero 2004 OM Neonatal brain injury. New Englarld
Journal of Medicine 351:1985-1995)
currently there is milch intere"t in brain cooling as an
intervention in full term infants,
-
m
C)
(10.';1 autort..');ulation, (Juctu,lIing blood pressure, and abnormal movements
J:
high carbon dioxide levels in respiratory failure) -I
Jack, a 2-day-old balry of an 18-year-old
5ingle primiparous woman who work5 in a
Mechanisms of neonatal brain injury nightclub. is noticed to make repetitive
A reduaion in CHI- and brain energy supply sufficiem jerky movement-6 of hi,;; arm!5 and to be
(0 cause damtl~ initially causes saml.' cdl death but the slightly blue. The whole epi~ode la9t9 le95
damaging proces:. colllinucs long afler CBF is restort..>d than 1 minute. Jack W8e born I:7y ventouge
(rig. 482)_ The key processes in ongoing damage are' and had previouely been feeding well from the
• Oxidatiw stress t;.rea5t.
• Apoplosis 365
Q1. What other Information from the history would BOX 48.1 Differential diagnosis of neonatal
be helpful? seIzures
Q2. What emergency investigations are indicated? Hypoxic-ischaemic encephalopathy
Q3. What management are you gOing to arrange? • Seizures within 24 hours of birth, history of fetal
dIstress and birth depression, often with early
l/l metabolic acidosis
·iii
c. • Baby is encephalopathlC; altered eNS state
Ql Q1_ What other infonnation from the
l/l
history would be helpful? Focal infarction (stroke)
"ll
ffi H,:thies with encephalopathy are charncteristically lethar- • Seizures often occur on day 2 or 3 and can be
focal
gic .1nd floppy; wilh a reduced 1C'\-cI of spontaneous
E ,lCtivityat firsL TItey tlu::n lx."Como.::: irritable. Witll seizures, • Baby usually still feeding and alert between
.S!! seizures - not encephalopathlc
o which .Ire the h<lllmark of the diseilse. I~ilbies who have
.g seizures without encephalop,lthy <\re likely to have
suffen.:d .1 stl'Uke. The most COllllllOli CdUSt: of an early Meningitis
Qi n\.'l1nal,11 cncephalopathy with seizures in a term baby is • There may be a history of prolonged membrane
E hypoxic ischaemicencephalopathy (Ilox 48,]). Neonatal rupture or of maternal pyrexia in labour
,; enccpll.1Jop..ltllY is a serious condition. occurring in 1-6 • Fontanelle often full; baby systemically III
8' per lOOO hirths at teml. 'Ihe monality is around 15%, and • Aemember to ask about maternal genital herpes
~
25% of survivors will suffer signific.lnt neurological
dbdbility. Neonatal abstinence syndrome
E • History of maternal drug use, locludlng
~ Q2. What emergency investigations are methadone programmes
.t:
indicated? • Babies otten SIeE!p poorly, feed avidJy and
,; scratch ttlelr laces
1JI
o Sec Box 48.2.
e
:J Q3. What management are you going to
Withdrawal from maternal medication
• E.g. selective serotonin reuptake Inhibitors
Ql
arrange? (SSAls)
Z
• Take a good history of maternal therapeutiC drug
• Admit the baby to the imen<:ive care unit; establish use in all cases of neonatal seizure
monitoring.
• Co!'t urg!'nt glucose and hlood g:ts. Hypoglycaemia
• Establish intravenous and ventilatory support, if
• There can be a history of poor feeding or
required. maternal diabetes
• ,\rr,utge first-line im't;stig,1tiolls, including Illmhilr
• Diagnosis depends on pertorming urgent glucose
puncture (U'). promptly
estimation on all babies with seizure
• Consider initialing treatment with a loading dose of
phcnobiHbilill if seizur~ quirkly n;Cllr or if a single
Inborn error of metabolism
seizure is very prolonged (r.ue in Ihe newborn)
• Restrict fluid in babies thought to h;l\'c IIiE but • WOf"Sening metabolic aCidOSIS and seizures
diffICult to control
lIlaiulain glucose levch.
• l'I(plalll c;eizun- 10 Ihe parents blll do nOl try • Diagnosis depends on careful investigation
10 prognosticate tOO early; the prognosis ,,-aries
considerably according 10 tile CdUSC and accurate Intracranial haemormage (subdural or
prognosis n-quirt'S information from LEG and ....IRI intraparenchymal)
• More common after instrumental delivery,
particularly If multiple attempts or failed
Preterm brain injury instrumental delivery
Genninal matrix-intraventricular • Baby may be pale and may not have received
vitamin K prophylaxiS
haemorrhage
• This is the most common cause 01 seizure in
'111C prClerm brain is particularly vulnerable to injury preterm babies
because alllOrt>gulation of CHr is often impaired, asso-
BOX 48.2 Investigations and their significance in BOX 48.3 Paplle classification of preterm brain
neonatal seizures bleeding
Full blood count Grade 1 Germinal matrix haemorrhage
• Anaemia, thrombocytopenia in intracranial Grade II Intraventricular haemorrhage with no
haemorrhage (ICH) ventricular enlargement
• Thrombocytopenia in hypoxie-ischaemic Grade III Intraventricular haemorrhage with
encephalopathy (HIE), alloimmune ventricular enlargement
thrombocytopenic purpura Grade IV Haemorrhaglc perlvenlncular Infarction
or intraparenchymal lesion; bleeding
Urea and electrolytes Into the parenchyma of the brain
• Glucose is an emergency investigation
• Occasionally hyponatraemia or hypernatraemla
or hypocalcaemia can cause seizures ciated illness Cl~ chal1]olCS in CBF and blood pressure
and the devdoping brdin (Qnt,lin!> the genninal m:urix.
Blood culture which is silllati'd O\\?r Ihe he.1d of the caudate nucleus
• Helpful in identifying organism in meningitis, in the floor of the lateral vCl1Iridc. The /o:Cnninal l1lillfix
usually positive has thin-walled \~Is and is often the site of blet'ding.
Blood clot in the b't'Tmmal malrix can obstrua the
Blood gas draining vein of the adjacelll bmin parcndlyma. leading
• Early metabolic acidosis in HIE to further damage frOIll hacmorrhagic vellOUS infar<tion.
• Worsefllng In inborn errors of metabolism, In This pattern of bleeding is called germinal matrix-
which case check the ammonia and lactate intrawntricular haemorrh.lge (G"tH-IVH). Bleeding inlO
the sumlance of the brain is oft.. n GlUed haemorrhagic
lumbar pyncture pcriwlltriOllar infamlon (IIPI) or intr.1panmchymal
• Essential investigation to diagnose meningitiS lesion (I PL). Older books use the Papilc classification
• Contraindicated if very low platelet count Of for IVH (Box 48,3), butlllorc modern thinking is that
severe respiratory compromise this implies a hit'nuchy Ihat <!O<'S not exisl and fails
• If cerebrospinal fluid (CSF) white cell count is to take into accoulll the fact that some lesions in the
elevated (more than 30) but no organisms are parench)'ma ofthe bmill C,IIl b..: isch:H:mic.
seerl on Gram stain, think of viral meningitiS; ask
for polymerase chain reaction (PCR) to be carried
out and give aClcloVif until result available Periventricular leucomalacia
In addition to bleeding inlO lhe pMcnehylTla of the
Electroencephalography (EEG) or cerebral brain, preterll1 bahles ;,tn' vulner:ahle 10 injury to
function monitor (CFM) trace the area in which white matter will form. This tends
• EEG helpful in confirming diagnosis of seizure to occur in the pcrivclltrirul<l1' arCil ,md i!> IHIIlled
and in assessing response to treatment pcrivcnlricuLH leu("olllalilci:l (I'VI.). In prelerm babies
• Background EEG helpful in determining the predominanl cdl lype in this area of the brain is
prognosis in HIE
• CFM not as reliable but can be a useful cotside
mOnitor
the oJigodendrOCYll.: pl'ccur~ur, ·l111.:SI' cdb cvclllually
111ature and make myelin, which begins to form at
around term. The oligodendrocyte prccursor cdl is
exquisitely VUlllCr.lble to d,II11<lge frulll frt:e r.ldic,lls and
-
m
C)
Ultrasound brain scan cylOkilH.'S. t\rea!> of d:lmaged rell~ rem:lin demyelinaled
in tho:: long term, :.iIld babies with cxtensive whilc mailer
:::t
• First-line imaging investigatIon for all babies with
seizure injury usually have cercbral p.llsy ,IS ,I l"l,.':>ult. MRI (('\ie,lls -I
far marc white mailer d,IIlMge in groups of preterm
Magnetic resonance imaging (MAl) babies than was previously suspected with ultrasound
• Second-line imaging chOIce in all babies except diagnosis alone. and the imporlclnce of loubtk change..
those with suspected ICH who require CT in the while lIldller remains to he delermined " here
• Useful to determine extent of disease and assist is concern that even subtle white mailer injury leads
with prognosis to altered connectiVity in the bmin, with cffcclll on lht:
• Essential if ultrasound normal and stroke conical and (enlral grey lTlal\o:~r This may Ix> the reason
suspected why shon am'mion sp.1n and le,uning difficulties arc
commonly seen in \"Cry prctenn survi\'Ors. 367
Key points: preterm brain injury in the firM 2-3 days and include irritability, tremor,
mmiting, diarrh~a, sweating and fever. Ihe drugs of
• Prctcrm brain injury is usually diagno~d wilh
abuse mOSt likely to be followed by neOIl,lldl abstinence
uhrasound scrccning in the nursery in a baby with
syndrome arc opioids. induding methadone. Babies are
no rlimcal signs_ Occasionally prest'lHation may be
oflen snuffly and scratch their f.1Ces Seizures can occur
"'ith anaemia. seizures and ,1 ten~ fontanelle.
but should be avoided by early diagnosis and effecli\'"('
"'
'~
• C,\.IH-IVlI is lightly linked with gcstalional dge
(large haemorrhages are mort' common in very
tre,lIl1lellt. Assc;smelll of the S<.vcrity of nt.:onalal
abslinenn'syndrome can IJt> made with a ~ringsystem
Ql preterm babies. panieularly below 28 weeks of
and there are a numOCr in common use around the UK.
"'
1J
ge..tation).
• Ilypercarbia. acidosis and hllli"mg are associau':d
11l(':~ ViiI)' in complexity and only one (the I;innt'go.,n
ffi with G~IH-rVH.

ch;ln) has been shown to reduce treatment duration
when compared to subicctive assessment alone. None
E • r'\!ll~ k~ tightly linked with gt.':>tational age than
of the (hans has been validated ,Ig"inst a lx>pulation
.!!l G.\itll IVII but is rare after 14 w..eks
of norm;tl babies_ Treatment is usually started with an
~
• Ilypocarbia and maternal chorio,lmnionitis arc
or,11 opioid. usually morphine up to a total dilily dose
,,<;sori,I1l,:d with rVI..
of 0.') mgjkg.. and few would now cnmkkr trCl\t1ll~nl
OJ • ~evere PVI that is cystic is .. "sociated wilh the
with Sl::'d,llive agents alone to bl::' adl::'quate. !'reatment
E developmellt of cerebral palsy.
is often required for around ,1 month. occasiollally
,; • SlIhlk while mailer damage i~ very common in
longn
OJ preterm babies but can only be diagnosed with
o
o Mltl; eMly research suggests that this ma)' be linked
to thc nellrocognitivt' and IJt:h:wioural problems Haematology
1ii that are common in prelerm survivors who do not
E h'l\"e cerebral palS)'. Basic science
m
s: 11ll,~production of blood cdb and platelcl5 from a
Slcm cdl line is referrt'd to as haenldtopoiesis and
~ Hydrocephalus the cells produced are known as haematopoietic
o
e:J
The occipito-frontal head cirrumferenCl" should be
Illeasured in all b.lbies at binh, ,md should be m~sun.-d
cells (Fig. 48.3). The 'mother' of all sh::m cells is, of
COli rsf', the fertili ....£<! o&)1e, but stem cell~ are defined
Ql againwhencvera b,l~'presentswithan illness Measuring as cells that can self-renew and can differentiate
Z the inf,ll1ts head is also part of dlild health surveillance into olle or more of the 200 cell types found in the
1IIldert"I.en by CPs and hCtllth visitors in the UK. The body. 'I ht're is rurrcntly great mtere"t in harve'lting
>- measurements should be plolled on a cemilechart; any stem cells from umbilical cord blood for usc in bont'
OJ devi,uion from the e:o.:pected traiectory along lhe cenlilc llldrrow transplantation. which is ,I rich somce of
o haematopoietic SIt'ffi cells.
o hill' c~lahti~hed ilt hirth "hould he taken seriously. A
In older children and adults haemalOpoiesis
1iic hahy with an enl<lrging hean rf'q\lirf'~ inve"tigiltion,
takes pl"ce ill the bone marrow. but ill the fetus the
initiillly with a crilni,ll ultr,lsound scan. although cr
g or MI{I should bt: perfortlwd if tlw diagnosis is not process hegins as early as the sixth wepk of pregnancy.
Z quickly apparent. in the Ijver, The liver remains an important site of
Not <III babit:s with enlarging heJds hJvC raised CSF hilClllatopoicsis until ({'rrn. llih'lll,ltopoit'sis i.s under
pr~"ure due 10 hydrocephalus. Other diagnoses are the control of cytokines; red blood ccll production
important. such as subdural haem:uoma and benign is stimulated by erythropoietin, white cells by
cntar~cl11ent of the subarachnoid space. BJbies tolerate different colony stimulating f"cloN (e.g. granulocyte
raised leI' beller than aduh~ bt.."Causc the skull is not colony stimulating factor. C-('$1') and platelets by
fused, but ewmually signs \dll develop These include thrombopoietin The production of red cells and
sunsclling of the cycs. bulging fontanelle. prominent haemo~lobill falls dramaticall). after birth. probably
scalp ...eim and \·omiting. '\leurosurgical help should because of Ihe sudden increasc 111 ti~ue oxygenation_
be sought but in an emergency CSI C,1I1 be drained via Production gradually increases so that by 3 months
an LP or OJ vcntricular tap. a healthy bahy Gin produce around 2 ml of rt.'<I cells
each day Ilowever. the reduced capacil)' for formation
in the carly weeks. combined with d shortelled red
cell .. urvi~1 and a nc(,:d for frequent blood :csts.
Neonatal abstinence syndrome
leads to anaemia in preterm babies In fetal life the
'-":t..'Olliual ,lbstinence syndrome can present at allY time pTt."<lominam haemoglobin is haemoglobin E which
368 ill tht., fir~t2 wecks oflife, btU in general signs are present ha~ it greiHer affinity for oxygcu Ihan haemoglobin t\.
srem T cells
cells
•
... B c;ejIS
""""'"
p"tlget1tOr cells ... ...
P1a:elels "-
1 /' ..,
;::i
•
""""'"
EOSl'lOphuS
.......... •
0
- - 0 - ""-
I \
. .'·..
Fig. 48.3 Haematopoiesis
Produdion of haemoglobin A remains at low levels Q3. What is the appropriate management for Chloe
until after 30-32 wcc"s of prl.'gnancy, and form:-. about and what is the prognosIs?
20-2'i% of lOla I h:lE':llloglobln alterm
Anaemia
Q1. Is Chloe significantly anaemic? What
Problem-orientated topic: is the expected haemoglobin for a
baby of this age?
pallor
The normal haemoglobin ,It birth i1> high COI1lP.H~J
Chloe i~ born by emergency caesarean to adult life ill 15-23 g/dl, ;jlltl ~lIlY h.1hy with a
scctlon at term, Her mother, a 35-year~old haemoglohin of less than 111 gjdl on a properly taken
physician, presented to the hospital because sample should be considered 10 h<lVl' dll,Wllli,!. NOI all
m
-
she noticed that Chloe had not moved at such babies w111 need d blood tr"mfllsion, bUI all sllch
all that day. A cardiotocograph (erG) hal? lXlbies cenainly dese....·c investigation into the cause.
The haemoglobin level f.llls over the tir1>1 few weeks of
shown reduced baseline variability with
life in all babies, reaching;\ nadir o( around 10 gjdl Q
decelerations. At surgery, there is meconium-
stained liquor. Chloe weighs 0.5 ~ and hal!>
al <lbout 2 mOnlh~ I'reterm babies have a more ",pid
and steeper fall. J:
Apgar score6 ofo' and 6 5. She responds to -I
bag and mask re6U6citation but is admitted
to the nursery becau6e 6he is noticed to I;Ie Q2. What are the most likely causes of
pale and is grunting slightly. Her haemoglobin the anaemia and how can this be
is 8 g/dl. investigated?
Inere arc thrcc In<Jin p,roups of Jisorckrs lhal Glme
Qt. Is Chloe Significantly anaemic? What is the noonatal anaemia, and sUllie hahles have morc than
expected haemoglobin for a baby of this age? one problem allhe "arne timc. ·Inc p,roups .Ife:
Q2. What are the most likely causes of the anaemia • Impair('(j red cell production
and how can this be investigated? • Increased rcd cell dcstruC"lion (h.umlOlysis) 369
product i<; ll::ucocyte-depleted cytomegalovirus (O..tV)-
BOX 48.4 Investigations and their significance in
anaemia negative concentrated red cells. ideally from a cross-
matched salcllite pack. Irradiation is oflen lISed 10
Maternal Kleihauer test 31l1elior:llt: the ri:.k of graft V('~us hosl {Ii~ase, and i'i
• Shows the presence 01 fetal red cells in the important for lOp-Up or exchange transfusion in babies
matemal circulation who received blood products in ulelC. Preteml babies
IJl • Important to diagnose fetomatemal haemorrhage n~d iron "tid folate supplclIlClllitlion. Lrythropoielin
·iii as a cause of neonatal anaemia
c. (,In be used 10 treal the andemia of prematurity.
Ol • Often a history of reduced fetal movements and although the reduction in transfusion requirements
IJl there can be eTG abnormalities
1l has nOl been impressive.
• Baby pale right from the start of Me
~ Full blood count including reticulocyte count and
E film Vitamin K deficiency bleeding
.!!l • Low white cell count and platelet count Newborn babies have low lC\'CIs of vitamin K-
iE
combined with anaemia suggest a marrow
problem
• Low reticulocyte count also suggests a primary
failure of red cell production due to inherited
dependellt procoagulant facton., and continued Vilillll in
K deficiency can lead 10 vitamin K deficiency bleeding
(VKI1I.l), sometimes termed hacmorrhagic disease of
the newborn. Vitamin K supplt.:lIIclltatioll prcvCI11.~
~
disorder or congenital viral infection
ITlO~t C<lses of VKDI3. ·n1t~n: is " very early form that
• Elevated reticulocyte count suggests haemolysis occurs in mothers receivin~ medication that interferes
~
• Red cells may be seen to be an abnormal shape with vitamin K metabolism, e.g. phenytoin, which
on blood film, e.g. spherocytosis requires maternal vitamin K administration in addition
E Blood group and Coombs' test to neonalal supplementation. Originally, vitamin K
~ • Positive Coombs' test suggests alloimmune \\-J.S mainly given by intramuscular injL'Clion but since
I: haemolytiC anaemia due to blood group 1?l)2 there has bet'll controversy aOOUi tht> roUie of
,:; incompatibility ben','een mother and fetus, e.g. administration The debate waS gt>nt>rated by a Study
Cl ABO incompatibility, although the test IS not showing a link between intramuscular vitamin K and
o
e~
always suffICiently sensitive
• Non-immune haemolysis is usually due to red cell
membrane disorders, red cell enzyme deficiency
later rhildhood malignancy, and in spilt> of the fact
that sewn of nine further studies on the same topk
Ql have failed to confirm the link. the dcbate continues
Z or a haemoglobinopathy (e.g. thalassaemia) to ragt>. Oral vitamin K preparations are a"'<Iilable and
Liver function tests have nOl been shown to be linked to laler malignancy.
• Elevated unconJugated bilirubm level supports bUI there is concern aboul ullpn.-dictablc absorption
haemolysis and parental compliance with the multiple oral doses
• Family history that are thought to be required to prevent late-onset
• Some cases of congenital anaemia (e.g. VKDB. With no vitamin K prophylaxis at all. the
Diamond-Blackfan anaemia in some families) are incidl:llrcur lalc·onset VKDR is <thout 7 Hl 100000
autosomal dominant births.
• SpherocytosIs is also an Inherited disorder with a VKDB is much more CUllllllUl! ill Lrcaslfcd babies
history of intermittent aplastic crises in affected because lhere are vel)' low amounu of vilamin K in
family members breast milk, and i[ hJ.s also been suggested th.lt [he
• Ask about splenectomy in family members ~ut bacterial flora of brcastfed babies produo..>s less
vit;lmin K th,m that of fonnula·ft'(1 inf;lllis
VKDH can be categorized as follows .
• mood loss.
Investi~ations are described in Box 48.4 Early
,. Presents within 24 hours of birth.
,. Uncommon now wim modern standards of
Q3. What is the appropriate management
obstelric care
for Chloe and what is the prognosis?
,. Most likely to occur in babies born to mothers
COll!>idt:rittion should be F,i"cn to blood transfusion taking drugs such as anticonvulsanls during
\,'hl'l1 :t It'rm baby j<; foulld 10 he significantly anaemic pregnancy.
shortly after birth and ;n prelerm babies who are ill ,. Sites of bleeding and bruising in....o lve areas related
370 with more modest anaemia. The appropriate blood to birth trauma (e.g. cephalhaclIl'lloma)
• ...Iay pre~~m wilh melaena or intracranial by ,lllacmia unconjugated hyperbilirubinaemia and
haemorrha.ge. a high reticulocyte ("OUn!. -Inc Coombs' tcst may be
posilive, suggesting a diagnosis of immune hacrnol) tic
Classic disease. The main causes ofhaemoly~is are:
• 40-50% of cases ofVKDll • Ilacmol}'tic di~~A~ of the newhom (I tOl').
• Prcsellls between I and 7 days following birth. il11mune haemolytic anaemi.l
• Primarily occurs in bre<l~lfed babies ancltho~e • Red cell membrane disorders
hom to mothers taking procoagulant medications. • Reu cell em:ylllop<llhies
• Typically prcsents with blt.:cding from the cord • llaemoglobinopathies.
stump The most cOlllmon CdUse of C.oombs'-posilivc
• May also present with melaena haenutcmcsis haernolysis i~ linN du(' to the uansplacE'llIal pa~s."lg{'
or bl~dillg from the orill or nasal mucous of IgG antibodies against rhesus antigens or antigens
rncrnbrant'S. of the Duffy (P) or Kell blood group systems. IID:-.J
• Does not usually in\'ol\... inuacraniallMemorrhage. can al<oo bt' cau<;('d hy antibodies to the ABO !»'::Ilem.
in which case it mainly accun. in habies horn to
Late mOlhers who Mc blood group 0 ,Hid whose babies .ue
• IVI:linly occurs in breastfed babies. blood group A or H. Ilaemolysis due to anti~A is morc
• M.lY also OCCUI' <IS a compliCillion in babies common than that due to anti-It
\vilh conditions causing cholestasis, such as In modnn ob'iletric praClice mOlhers with rhesus
Ct. -antiuypsin deficiency. and in babies with antibodies are Ilsually delecled during pr\.)\Il<IIU)'
malabsorpli\'c conditions such as CYSlic fibrosis and carefully monitored. '1111.: timing of delivery is
• Infants who are treated wilh long-term broad- a Ulallcr for di~llssion and rt'quires cooper,uion
spectrum antibiolics rna)' also be at risk b...>C3USC of belWrtll obstelnc and ncon,llal slaff with input from
reduction in bacteria Ihal produce vitamin K. specialists in tr,lnsfusion Ill.......tidne (in \a!>t.' frt.'Sh
• C1assicillly pr("S€'nts wilh signs of sudden blood for an exchange lTamfWiion is required), I'clal
illlracrani;"li haemorrhage. tr<lllsfusion has revolUlionized lhe managemellt of
severdy rhesus .. ffected babies, so lhal hydrops i~ tlOW
Diagnosis rare. Further. lhc u~c of !Inli-I) illlillunoglobulin given
The diagnosis is b,Ist.'<i on a prolongation of Ihe pro- 10 rhesus-negalive mOL hers in pregnancy and .ther the
thrombin time. Ihe platelei count is normal andso is the binh of a rhesus-positivE' baby (and at other time<o
fibrinogen level; the baby does not have dis:.cminated such as external n:phalic 'wen.ion when felOmalem.ll
inuavas<:uldr co.."lgulation (Ole). In severe caSt'S Ihe haclllorrhage could cause sensitizalion) has rcduc...-d
pani'lllhromboplastin time is al50 prolonged. the number of affected wOlllen ~ul>slantially.
'111e treatment ofsevere hat>molysis is wilh exchange
Management transfusion, which com~C1.s the anaemia Jnd washes
J'reatment is with vitamin K. eilher orally or intra- Dill lhe bilirubin Babics with mild haclIIolysi!> ColI1 be
venollsly. dq)cnJillg on the severilY of the situation, 111e managed with phototherapy inili'llly and a 'IOp-Up'
prlllhroinhin lime rnpidlycorrecrs to nonnal once vitamin tf'",-)I1.~fu'iiol1, if required. later 011. Folic acid musl be
given to all babies with haemolysis.
m
-
K is given. Fresh frozen plasma may dlso be required
for babies with ~.:\'t::fe or continuing haemorrhage or
illlraCr<lnial hat'morrhage_
Hl~ding in the neonatal period is not .lIWll)'S due Glucose-6-phosphate dehydrogenase C)
(G6PD) deficiency
to "KDB. and other causes 10 consider are'
• Tr:lUrna, including non-accidemal nlis roo cell enzyme disorder can prCSClll in the
:I
• Die neonatal period, usually with lll,uk...-d jaundice bUl -I
• Inherited coagulation disordcls, e,g. hacmophilia not with anaemid, G6PD deficient)' is X-Iin\.:('d and
• rlatelel prohlems (see below) hcnce is r<lfe, bIll nOl unknown. in femalc babies.
• Caslrointestinal pathology. e.g. tlccrotizillA Ihe disorder has a high prcvdlcllcC in cenlral Africa.
enterocolitis (NEG). the Middle Easl, lrojliGil and whlropical ar('as of Asia
and the Mt'diterr,lllean. Ihe ~eographical distribution
mirrors. to some extent thal of llldlaria and C61'D
Haemolysis in the newborn deficiency is associalt'<i with a Tl'duced susceptibility
Ilaemolysis is a relatively common cause of neonatal 10 malaria. -...JOI all babies wilh GGPD dC'"...lop marked
,lllaemia. TIle dia~nosis of ha\."lllolysis is suggesled hyperbilimbinaemia bUl man)' do and kcrninems 371
can occur. Currenl thinking is that the combination The delivery of a baby with hydrops is an emergency,
of G6PD deficiency and Gilbert's syndrome is the and intubation can be difficult becausc of oedema. An
explanation for rhe very severe hyperbiJirubinaemia attempt should be made to resuscitate the bahy lind
seen in some babies. Once the diagnosis is made, aspiration of pleural or periloneal fluid may make
parents must be counselled about foods and medi- resuscitation easier. Investigations should be set in train
rines that can trigger acute baemolysis, Examples as soon as possible to invcstigate the CJUSC because the
<Jl
'iii are antim<llarial drugs, broad be<lns (fava beans) and bahy milY die early in spite offull intensive care.
Q. sulphonamide antibiotics (e.g. Seplrin). Most people
<Il with C,6PO ddicicncy do t101 have chronic haemolysis
<Jl
1J and do not require folic acid. Thrombocytopenia
ffi The normlll plalelet count in lhe newhorn is the saITH?
E Hydrops as that in adults: above 150 x 10 9/1. Thrombocytopenia
,!!l Hydrops describes the condition that occurs when
is J. common problem in the newborn period, parti-
i
cularly in sick prcterrn babies rL"Ceiving intensi\'c C<He
the fetus has excc~s body water, with massive sub-
when it is often all indicalor of sepsis.
cutaneous oedem<t oflen accompanied by pleural
Many of the possible causes of thrombocytopcnia
and peritoneal effusions. Ilydrops is not a diagnosis
are very rare, but for practical purposes there are
E but is the end result of a number of disorders. The
only a few conditions thaI must be remembered and
,; condilion is serious, with a high mortality, and it
understood.
8' is important 10 try to make a specific diagnosis in
~
order to counsel parents about lhe likely outcomc
for future pregnancies. Early-onset « 72 hours) thrombocytopenia
E Ilydrops can be caused by fetal anaemia, in which
'111is is common in growth-restricted babies who ha\'e
~ case it does not u~ually dcvelop in fctal life unless the
been subjected to placental insufficiency causing a
.c fetal haemoglohin is less than 5 g/dl, lind it is often
around 3 gjdl. IIDN due to rhesus immune disease can degree of chronic intrauterine hypoxia. Thes~~ hahies
6i
o
cause hydrops, and ABO incompatibility c.ln be severe have reduced numbers of progenilOr cells, but the
condition gradually resolves over a period of time. The
enough tocause hydrops in very rllre .aSL"S. In th{: pasl,
e
~
rhesus iso-immunization was the most common Clluse thrombocytopenia is not usually vcry severe hUI on
occasion platelet transfusions are required.
<Il of hydrops. whidl is often classified into 'immune'
Z and 'non-immune' categories as a result. Babies who do not haye intrauterine growth
Other imponant causes of anaemia causing hydrops restriction (IUGR) but who an.:: found to have early-
<If(' crythrovirus 19 (parvovirus B19) infection. Alpha-
onset thrombocytopenia may have the condition of
~ thalassaemia maior can also cause hydrops and prcdo- neonatal alloimmune thrombocytopenia (NArrp) -nlis
g minantly affects families of South-81st Asian origin. is the platelet equivalent of llDN anJ occurs when a
~C Both parents of a baby with a-thalassaemia major mal her forms ;l1ltibodies againsl her baby's platelets as
will be C<Hriers of the gem: (localized to chromosomc a result of exposure during pregnancy (usually a platelet
o 16) and will have hypochromic microcytic anaemia group HPA la-negative mother with a HPA la-positive
<Il baby). -Ihe condition can cause severe thrombocytopenill
Z themselves.
The broad diagnostic .alegories of disorders that with platelet counts below 30 x 1O~/1. and the baby may
can cause hydrops are: present with petL'(~hiae or imracraniill haemorrhage in
• Ilaemolytic disease of the newborn (rhesus iso- aboul 10% of unlreated cases. Treatment is with com-
immun iZllt ion) patible platelet tr.'lnsfusion if available or random platelet
• Cardiac disease causing raised cetHral venous transfusion together with intrayellous iuununoglobulin.
pressure
• lntratlloracic space-occupying lesions interfering
Autoimmune thrombocytopenia
wilh lymphatic drainage
• Livcr and gUl disorders CJ.used by the placental transfer of platdet antibodies
• Congenital infection from a mother with idiopathic thrombcxytopen ir purpura
• Metabolic disorders (I'IV) or conditions such as systemic lupus erythematosus,
• Chromosomal disorders, e.g. trisomy 13. 18,21 autoimmune thrombocytopenia may also occur in the
• Fetal anacmiil lIt.XJIlate. TIlC risk of intracranial haemorrhage is al)()ut
• Syndromes, e.g. Noonan's 1%. In babies wilh platelet counts below 30 x 109/1.
• PI,Kental abnormalities who are olherwise well, the current advised treatment is
372 • Maternal illJometdcin therapy. intravenous immunoglobulin.
Late-onset thrombocytopenia encephalopathy only to develop kcrnicterw. arc usually
profoundly disabkJ by athefOid cerebral I)alsy and
This is often associaled with s}"'Stemic diseasc, either
sensorineural c1eafness Kemicferus can be prevented by
l.:ue-onSCI sepsis or NEe. l1Hombocytopt:nia can also
amiding high INeis of unconjugated bilirubin, usmg
be a dut: to congenital infection wilh CMV, fOXOpltUlnJI
phototherapy and cxdunge tran:.fu~ion.
or ml>t:l1a
Platelet transfusions are indicated if lhe platelet
count is Delo\\' 30 x lO"/l in an asymplomatic baby,
@ http://www.pickonline.org
and below ')0 x 1O'f1 in a baby who has a bleroing Hypefbilirubmaernia. A US webslte for parents 01
problem « 100 x 10'/1 if there is major h,lt:morrhage)_ childf8ll brnIn-damaged by bilirubIn, IncludIng Yldeos
show,ng lhe long-leon effects
111e tlldin risk of thrombocYlopenia is intracranial
haemorrhage PhOtolhcrdPY works by providing photons of light
energy in a wavelength likely to be .lbsorbcd by lht:
bil irubin molecule, which enters all C.'(ciICd sl<llt'. ,\bOIlI
Metabolism 80% of the lillie lhe bilirubin molecule losE'';; the excess
energy and returns 10 normal, bUI aboul 20% of the
Neonatal jaundice lime a photochemical reaction occurs; (!lese I'eanions
include conflgur.lliOllal and .~lruntlral i,;;omcri7;Jtion,
Basic science of bilirubin metabolism
and photo-oxidalion. Ihe photoproduclS {which
Hilirubin is produced as a bn>akdown produa of include lumirubin} are thought to be mort' w,ller·
haemoglobin During the breakdown proCl.::.s t.he iron is soluble than unconiugaled bilimbin :md hence more
n.:us..:.-'d and a molecule of carbon monoxide is exCrt'IOO. rapidly excreled in bile. 'I"e rate of bilirubin dt.-dinc
Carbon Illonmide can be measured in bn>alh and the is proponional to the dose of photolher,lpy, ,mel in
ronttntr.'llion isan index ofbilirubin fonnation. Bilirubin babies with :.e\ll're j<lundire il is imponant to expose
is transponoo tu the liver in lhe pl<t:.ma, largely bound to as much skin as possible to light of an .lppropriatc
albumin.l1lis form of bilirubin IS termed 'unconjugated' SPfffrum and to use adequate irrildiance (mort: bulbs.
or 'indlrt'et' bilirubin (the teon indirect comes from the well maim.lined).
way lhe l.looratory tests arc used). n,crc it is taken up f laelll<llological Gluses ofnronatal jaunditt are com-
by tilt" hq>alic conjugating system, forming 'conJugated' mon and usu,lIly related to haemolysb (~'C .11)()\.'e).
or 'dire«' bilirubin. ConJugated bilirubin is water~ They include.
soluble and is excreled inlO bile. Rile lravels in the • Irnmulw haemolysis (II Dl'.): rhesus, ABO, Duffy
bile duCls to the small bowel and bilimbin undergoes or Kell incompaltbility with matern:11 alltibcldies
funher metabolism in the gastrointestinal tract. SOttle • I~d cell membrane disoreler~, e.g. ,;;pheroc)'tosis
bilirubin ill the small bowd is demnjug:llfcl again by • Red cdl el17yrne disorders, e.g C6PD deficiency
<In ell/.~'n1l', f\-glll('uronidase, and il can be reabsorbed • I laemoglobinopathy (rare)
from Ihe Ilimen of the small bowel. 111is Jdds to lbe • Infection c.lUsing hileJllolrsi.~, C.g. r:MV,
load of unconiugatcd bilirubin. This 'cnlcrohepafic loxopl<lSlllOsis, s~'philis,
rccirnllaliol1' of bilirubin is a p:lTliClilar problem in
babie~ who are nOI flllly fed or whose bO\\lcl is nOI yet
cololli~d by norlllal flor<l. In felal life llnconjugaled Problem-orientated topic:
m
bilirul)ill c<ln easily cross the placellfa for disposal by
lhe m;uern.,1 liver, and maternal liver disease call lead
to high bilirubin [('Vds at birth.
late-onset jaundice
lucy is a 15-day-old "aby who was "om at

37 weekE;' gestation and who required
-
Q
respiratory support for 3 days. She was slow :I
Jaundice (including biliary atresia) to estal;>/ish feedl5 M 16 now on full feeds of -I
laundicc is cxuemdy common in nt.'\\-born babies and l7reast milk. partly through a nasogastric tul1e.
60% of all \\-hile-skinnro babies are ViSIbly jaundiced She was first not&! to "e jaundiced at 7 days
in Ihe firsl week of lifE'. The kE'}' problems in neonatal and tl1e lev8ll5 of "llInJ"ln are slowly rising.
jaundice arc in dClennining when jaundice is a sign of
more ~eriollsdiseaseand in the pfC\-"Cniionofkerniaems. Q 1. What IS the definrtron of late neonatal laundice?
KerniCterus occurs when unconjugated bilirubin crosses
Q2. What IS the main differentIal diagnosis?
the blood-brain barrier. Once inside the brain bilinlbin
b loxic to lhe <!t'ep grey maller, the globus paJlidus Q3. How would you assess this child?
in panimlar. Children who survive aalte bilirubin 373
Q1. What is the definition of late neonatal BOX 48.5 Causes of late unconjugated
jaundice? hyperbllirubinaemia
Prolonged or late neonatal iaundice can be defined • Breast milk jaundIce

as visible j,lundice - serum l>i1irul>in > 85 .umoljl • Haemolysis:
- persisting or u<curring al 14 days of age in full-term - Blood group incompatibilities (ABO and rhesus)
- Spherocytosis
'a."
'iii babIes and at 21 days In preterm infants.
- G6PO deficiency
• Increased enterohepatic circulation:
''c""
1) Q2. What is the main differential
diagnosis?
- PylOriC stenosis
- Bowel obstruction
11l • Endocrineimetabol,c:
E The mOSl common cause a! prolonged jaundice in full· - Hypothyroidism
It:nll illfants is benign ,Iltd .lttdhutable 10 breaslfeeding; - Hypopituitansm
2'11l" up 10 <,% ofbre.1Stft't'ding infants are still Jaundiced at

28 days of age. Ilowewr. late-occurring iaundice can -
Hypoadrenalism
GaJaetosaemla
- SePSIS:
a; be an imponalll Si~ll of .1 number of relatively rnre
Systemic
E condilions. the long-tE'nn outcome of which may be
Urinary
f.wour,]bly influenced by early diagnosis. lncse include
,;
Cl congcniLlI bili,u\' dlroi.l, mngcnital hypothyroidism
o and !}llariosaemia. I.ate Jaundice can also be a sign of
(5 acute illness. such as urinary infection or septicaemia. The diagnosis can be suspectcd iflhere arc reducing
15 or of persisting hdClIlolysis. substances presenl in Ihe urine, Inn lhis teSI is not
E In prell'rIll infilllls the mosl common cause of con- sen'litive or specific and mUSI bE> confirmed by the
~ lugated hnwrbilimbin.lemia is paTemer.t1 nutrition. analysis of erythrocyte g.ll.lCtose-I-phosphate uddyl
J: transferase. Affected babit::> lllU'l1 bt' gi"en a lactose·
g; Q3. How would you assess this child?
free diet. l>eot achieved in infancy by u'ling soy milk.
L1nfonunalely lhe IQ is often permanently alTl..'Ch.."t.l
o
e~
In assessing infants wilh laic jaundice the following
Me imparl.lll! <.jucs!ions 10 ,lddrcss:
by the lime d diagnosis b lt1<lde ,tIld treatment begun.
e"en Ihough the lh·er disease recovers and Ihe cataracts
can be trealed (or may re~ress somewll<lt). In lht>
Z'" • Is Ihe h,lhy ullwell:
• Is the urine dark ,llld/or are the stools paid
long «:flll ostcoporo.\is i\ a complie,ilion and dietary
calcium Mlpplernell1,llion I~ required. Young womcil
• Is tlll' serulll!pldsllla nllljug<l,cd bilirubin with galactosaemia require hormone rcpl<lCCmell1
~ concenlralion r:lised (> 15% Dfthe tDtal)? ther,lpy.
.Q A scret·ning H·~t on lht' bloDd s.llllple currently
o A liSI Df G1USCS Df prolonged/laiC iaundice is shown
collected (or phenylketonuria screening would be
15c ill BOXl:S 485 and 48.(,.
possible but is not comilkn.:d fOsl-eff..:nive at prt>serJL
o
Z'" Galactosaemia Hypoglycaemia (see "Iso p. 128)
CaladOS,l('mia i~ ,m extremely rMC discase with a
Basic science of glucose metabolism
fn':ljuelll..l' of ,.pproxilllaldy J;4'}()OO in ,he 11K, and
i~ a rt'(I;'~~iH' gt'.lt'lic disorder. II is due tD deficiency of IIt>althy adults mainta;n serum glucose lC\'Cls wilhin il
the enzyme g.llaCiose 1 uridyl transferase, an enzyme very light range of 35-7 mmol/I during filsting or after
invoked in the conversion of galactose intD gluc.ose medls, dud they do this on a diel in which the m:lin
(galilnosf' is clt·rived from lanose, milk sugar, which energy <;ources are fal- and sugar based Maintenance of
is broken down to g,llaclose and glucose). Classically. semm glucose depends on a fecdback loop involving
babies prest'nt tow,m.!s the end of the first week with the li\'er. the p,lllcrcas and the process ofglycogenolysis
vomiling. diill'rhOt'il, failure 10 thrive and jaundice_ (lhe breakdm"n of glycogen Stores to make glucose)
Ihey may present with signs of VKDB due to the IkeI' (fig. 48.4). Gluconeogenesis is the process invol"ed in
discdSt:. There is ,Ill ,Issoci,ltion with sepsis, most the production ofglllCOSC from prealrson>such as amino
commonly iln /:.s.:hnidlul «.1/ urinary Irad inferiion acids, lariate, and glycerol derived from lipolysis. The
th.ll (",m callSt' seplic,lemi:l Cataracts often form very felus cannot m.lke glucose from glycogen, and is wholly
carlyon and. if not rc(~nizcd and neated. lead to dependelJt on a supply of gluco"ot' via Ihe placenta 'Ine
374 \'isu.11 impairment from itmhlyoria feilis dOt"! mit!..e glycogen, and the liver stores at lerm
arc sufficient fur dlJoul 10-12 hours of fa<;tlng At
BOX 48.6 Causes of conjugated
hyperbillrublnaemia binh, the fetus is disconnected from the cOlllinuous
supply of glucose and hilS to adapt quid..!y to lhe
Cholestasis fast-ft..'Cd cyde; glucose levels fall ,md thert: i<; a surge
• 8 lIary atresia of glucagon and a fall in insulin levels. It takes more
• Choledochal cyst than a few hours for the newborn b.lby to switch all
• 'Inspissated bile' syndrome (following glucolll.':ogenesis. During the im..'\'itablt: fa::.tillg pha::.e
haemolysis) of lht': fiT"it few days of life (the volume of colostrum
• CongenItal bile duct hypoplasia (AJag1Ile's is very small, about 7 ml per feed) the baby's brain
syndrome) can use ketone bodies as an ahernati\ie fud -Iht'Tf is a
• Gallstones brisk keTogenic response in the nonnal baby. and the
neonatal brain can extract ilnd usc ketollt..'li much morc
Neonatal hepatitis syndrome
cfficicllIly thdll Ihe adult brain. I1lt~rt: i<; a suggestion
• Idiopathic neonatal hepatitis syndrome
that formula feeding interferes with the ketogenic
• Intrauterine infections (e.g. 'TORCH' infections -
rf'Sponse, and this thinking is behind much of the
toxoplasmosis, T\Jbella. cytomegalovirus, herpes
current advice regMding iniliation oflm':<lstfl't'llil1g.
simplex)
• Alpha 1-antitrypsin deficiency
Definition of hypoglycaemia
Metabolic
[n recelH yeMs lhe toler.mn: for luw bloud sug.lr
• Total parenteral nutrition (TPN)
in tlt'\vborn infant~ h:ls inne:l".o?<1 so thai it ic: now
• Hypothyroidism
accepted that low blood sugar [C\'ds of < 2.6 mlllal!l
• Cystic llbrasls
should be trcilll..'{\. Studies havc suggl.'Slcd tlMt hluod
• Abnormalities of carbohydrate metabolism, e.g.
sug<1r values bt:!ow this are as.'\O("iaied wlIh poorer
galactosaemla. lructosaemia
neurodt?\1"lopmelllal outcome and acute deterioration in
• Abnormalities of bile acid metabolism
neuro[ogICi1I function measured byevokt..'d potenti,lls.
• Abnormalities of lipid metabolism, e.g. Niemann-
PIck type C
Causes of neonatal hypoglycaemia
• Abnormalities of amino-aCId metabolism, e.g.
tyros1naemla See Box 48.7.
• Congenital peroXisomal disorders, e.g.
Zellweger's syndrome
BOX 48.7 Causes of neonatal hYpOglycaemlB
• Hypop,tultarism
• Sepsis Transient
• Urinary tract infection • Developmental lags in gluconeogenesis and
ketogenesis
• Transient hyperinsulinism; infants of diabetic
-
Raises
"""
High blood sugar
promotes insulin
release
•
mothers
Reduced glycogen stores: IUGA, HIE
Persistent
• Hyperinsulinism:
-
m
"'"
t +-
Glucasoo
snrnw:es
breakooNn
d_
1
~
- IdiopathiC hyperinsulinism
- Potassium-adenosine triphosphate (ATP)
channel
- BeckWith-Wiedemann syndrome
Q
J:
• ,- • Counter-regulatory hormone deficiency: ~
_.boo
S'Jm1A6:e. - Panhypopituitarism
! 1 - Isolated growth hormone deficiency
,---
d <tl'Oll"' - Cortisol defICiency
l_
."'....." r 15500 ceJls

(rr JScl8
Iudney e:c.j
j,-
- ..... La.... blood sugar
prorrIO:es glI«:agon
• Glycogenolysis disorders:
- Debrancher deficiency
• Gluconeogenesis disorders:
- G6PD defICiency
- Pyruvate carboxylase deficiency
• Fatty acid oxidation disorders
Fig. 48.4 Regulation of glucose 375
Hypocalcaemia, metabolic bone re...ised its vitamin supplemenlation poli(')' 10 Mlvisc
th,1I all br~a ..tfed infants, and those on mixed feeding
disease and vitamin D-deficient rect>iving less than 500 ml offormula d.1By, shoulJ be
rickets givt>n 200 IU of vitamin 0 daily_
Rickell> prOclits with the sign.. ofh)1xx:alcaemia and
The serum ioniLt'd calcium 1L,,'d r.dls in ...he firs!
the bony changes are diagnostiC. X m}'s show cupping.
14 hOlm of lift:. ilS,illoUIll contiml('S 10 be takell up into
"'
"iii
0.
lIe-wi)' forming bone. ('ven though Ihere is a cessation in
the c,llcium supplied via the pldCCnt3 and it I>oslna(;l!
fraying and spl.aying of the mClaphysb of a long bon('~
and the changes are often besl-.een atth(' wrist Iheskull
$ ~urg(' in Gl.kitonin. -nle failure 10 calcify newly fonning
bones <lrl' softened, termed craniotabes, Ilypocaicaemia
u can present with seizures in LIne m..'UlI;ltall~ri<xl. I{ickels
C bone .ldequately cventually causes rickels.
is most often due to simple dietarydeficien0~but mrely
ttl '111(' definition of hypocalclt:l11i,1 thus varie"l accord-
can bt> due to a non-fllncuonin~ \.;tamin 0 r("(eplOr
E ing lCI !loslTl:l1al age, wilh it lower limit of normal
(\-itamin D-resistant rickets). reJ1<11 i..Iise,ISC ur familial
"' dunng Ihe first day. Total serum calcium should fall
fornl~ ofhypophosphataemic rickets.
~a;
in the range 1.18-2.48 lIulIol/l (iuniLcd 0.81-1.4\) all
I'rf'lerm babies are at risk of de\'elopin~ metabolic
the fir~1 day.•l!1(1 rise 10 2.26-2.(,') (ionized 1-1.5) by
bone disease. which can progress to rickets if left
the end of the first week of life.
Ut)\n:::"lcl.l, bccau!>c lhe dklary supply of calcium and
E Sip,ns of hypocalcaemia include:
phosph'lte is insufficient 10 meet Iheir needs. -111cse
• Inil,lhilily, twitching
~
babit>S usually haw a low serum phosptl<ltc wilh a high
• ~iztlres
o "IIwHlle phol>ph;uase and their bOllel> are deminerali7ed
• Lethargy
o • rt't'll inlokrance, vomiting.
on X-ray. I-ractures can occur, panicularly rib fractures.
~
The emelgenC}' lrealmC.,t uf lol'lIlptomOilic hypo--
I'Jrly hypocalcaemiJ is common in preterm babies, calcaemia il> with intravenous 10% C'Alcium gluconale,
"
~
inf.lIlts of Jiabelic moLlu.>rs. IMbics \\ hosc mOfhers
had poor \-itamin IJ SlalliS during pregnancy (often
gi\'t'n uwr 10-60 minutes Babies C;1I1 then be st,med
on oral calcium and calciferol whilst confirmation of
immigrant mothers), and babies stressed by perinatal the diJgnosis is sought with X-ray... Phosphate supple-
~
o
hypoxia. mentation is not n'Quirro. exCepl for prt'term babies.
Pl'~i~h"lll hYlloc<llcaemia su~oesls hypoparath~ midism, ""'hen a diagnosis of rickets is madc ill a baby who wa~
e
:J
Jnd a bJbrwho IS hypocalcaemic and who also has cardiac born at term, of norm<ll weight, evidence ofostromabcia
disease should oc cht-ded fur Di C....,orge lo)'ndrome by should be M)ught in the mother, whose ..ita min D status
"
Z examining tht" dlromoSOlHt'S for the characteristic 22qll
deletion Ihere are a number of other rare genctic
IS likely 10 bE- marginal. and the olher dlildren in the
family shoulJ be ill\'eSligat<--d for ril'kt'ts.
>. causes of hypoparathyroidism l>uch a~ I{DR l>)'mlronH'
(llYPOPiH,lIhyroidi~m, (/eaftH'ss <l1l(1 renal dysplasia).
8' 'Ihe newborn baby has :t stOre of vitamin D, Sepsis
~c which reflects lhe \"it,lmin D status of the mother. Pre-
leTm bailie!> fcd unsupplcml't1tf'd hllmi1n milk mOly Basic science
o develop borderline vitamin D levels. Vitamin D
B"bil:~ ,HI.' particularly vulnerable to infeclion for
"
Z supplemenlation illiprovcs t..llLiulll dbloOrjHion anJ
Tclt'nlion, ,Ilthough lhere is no evidence thaI massive
many rea~ons, including-
• There is reduced skin integrity.
doses (:tbow 1000 III per day) or <ldministration of thc
• ·1111::r..: il> (requpnl damagf' to tht' respiratory
.1Cti\.'t' metabolite ,1re of ocnefit, 111ere is an algument for
epilhelium from oxygen or venlilation.
l>UPl'll.'l11l'tll;uion of <III pregn,ltll rnollwrs and newborn
• "'here is an immature responsc to oiganisllls in the
hahlt's in countries where sunlight is limited In the
gastrointestilldllracL
Umish Isles, sunlight exposure is often not adequate for
• TIlt: neonatal neulrophil pool in Ihe marrow is
vit.lI11in 0 manufacture. ,md in this situation dietary
ea~lly exhausted and the ncutTophils are poor at
wurCe<i bec'ome es.selllial. RickelS and vitamin D defi-
migrating and ingesting opsoni?fd pathogens.
ciency arc a p,ll1icular problem in immigrant families in
• T ;Illd Kcells are immature .:md :tre naIve with
the UK and nonhem Europe at the PTNeI\l time. Dit'tary
respect 10 foreign antigens and paLllogens,
sources of vitamin D in infancy h:l\'(> bE'en shown to
be m<lrginal. and poor diet combined with indoor An understanding of the way III which the body
li\'illll,. <ltmo~pheri( pollUliull and increased use of reacts to pathogens is imponant and there has been
loI1ll~l'Tt:t:1l Ius lxen rl'l>ponsible for the resurgence of an explosion of knowledgc in the la~t 20 years. l1u'
simple vitamin D deficiency rickets in recent years, inflammatory response indlldl~a 'cytokine cascade' Cells
376 "l1\C American Academy of Pt:di,llric~ has recelltly such a~ manophages, when ~Iimulaled, release tumour
Amniotic ftuid _-IJterus
[
>r~
""",.
\
C"",,",[ 'yCMnM'' ' '.

----Chorodeodl.aI ~~--+4--F.'
rlo<>M
""''''''
- - -cer-vu:
>
Fig, 48.5 Potential sites of bacterial infection within the uterus,

(From· Goldenberg RL et al 2000 New England Journal of MedICine 342'1500-1507)
necrosis faaor and interleukin (1L)-1.lhese mol«ules

trigger <I GlSGldc thai includes other interlcukins. platelet
ilC1l\'<lling fadar, pllYitaglandins and leukmrienes Ihere early neonatal collapse
is upregul.1tion ofthe adhesion molerules such as selectin
.md this helps Ieucocytcs to roll <llong the endothelium Harry;5 born Py emergency caesarean section
direcled hya c!WrTIotaClic gradielll, in order Ihat they for failed induction, at term, weighing 2.5 kg.
can reach the ;'Ire;'l of in";'I'iion. He is in good condition with a normal cord pH.
OcC<1SiOIMJly thcre is an over-zealous response, The membranes were ruptured for 11.5 hOUN>.
rcsulting in the '~YSlclllic innalllmillOl)' re-ponse ~yn Harry is noted to be grunting from the age
drome' (.'lII~S) 'I hi .. is re'ipon~ihle for lheclinical features of an hour; he is intubated because of rising
of septic shock: hypotcnsion, thrombosis, pulmonaJY oxygen requirements and given surfactant
oedema with incn.::a~cd V<lscular pe[lm.'abilily and and antibiotics. Two hours later Harry hal5 a
multiple org.1n f;'ll1l1re ~11l~ i~ the rea~oll why some
cardiac arreE>t.
b,lbics wilh NEe ..tnd e.lr1y-onset group 13 streptococcal
(CKS) di.'iciI'«' die wry mpidly in ~pi\(' of antibiotic
Ql What are the most likely causes of the cardiac
m
lherapy and full inten~ive care "tlppon.
There is increasing interest in the fetal inflammatOly
n''ipons(' syndrome 100; illfcnion is a common
!rigger for preu:rm delivery Chorioamnionitis occurs
arrest?
Q2_ How would you investigate this child?
Q3. Is any other managemenllndicated?
-
C)
when the maternal polymorphs galher under the
chorionic pl,ltl.:, .luracted there from the inlervillous
::t
space (Fig. 18.'}). Lverllually lhey liMy invade il
-I
and cross to the amnion and the amniotic fluid. Q1. What are the most likely causes of the
Chorionic vasculitis <1m..! funisitis are thought to be cardiac arrest?
fetal inflammatory responses, and are associated
with a 'cytokinaemia' baDies whose placenta shO\\"t~d See Kox 488.
fUlli ..itis have high h.",·ds ofinterlcukins in cord blood.,
for example Illere is a re1:uionship bel\\ct'n the felal Q2_ How would you investigate this
inflammatory response syndrome and later cerebral
child?
palsy. which ilt present for bolh chorio.mlllionitis and
funisitis btlt is we.1J.:er for Ihe fanner. See. Rox -18.". 377
BOX 48.8 Differential diagnosis of shock early BOX 48.9 Investigations for neonatal shock and
in hfe their significance
• Sepsis: particularly early-onset GBS disease • Electrocardiogram (ECG) monitoring, blood
• Congenital heart disease, ductal-dependent, gas, blood pressure, saturation monitoring: to
with closure of the ductus: e.g. hypoplastic aortic assess the need for inotropic support, volume
replacement and cardiac rhythm
"'
.~
arch, coarctation of the aorta, hypoplastic left
heart syndrome (p. 360) • Chest and abdominal X-ray: to exclude
Ql • Arrhythmia: e.g. supraventricular tachycardia pneumothorax and to check the heart size
"'
"ll
(SVT: usually babies cope well for many hours);
ventricular tachycardia (VT; very rare in babies,
and position; look for free air in the peritoneal
cavity
iii suggests a myocarditis) (p. 360) • Blood culture, urine culture and surface swabs:
to attempt to identify the organism in sepsis, not
Inborn error of metabolism (Ch. 34)
E •
a rapid test
.!!1 • Blood loss: e.g. massive subgaleal haematoma.
o ruptured liver. splenic rupture, intracranial • Full blood count: a low white cell count or a
.0 haemorrhage with raised ICP very high one suggests infection. Babies do not
tE • Tension pneumothorax (p. 349): especially in an

intubated and ventilated baby or a baby who
mount a specific neutrophil response to bacterial
sepsis. The platelet count often lalls in sepsis
orNEC
required resuscitation or needling of the chest
,.; • Cardiac tamponade: especially if there is a • C-reactive protein (CRP): the normal value varies
8' central venous line in place between laboratories but is usually less than
1 mg/dl. Serial measurements are more valuable
~ • Gut perioration: think of this in a small preterm
baby, particularly with NEC, but gastric and
than a single estimate, and the CRP may take
48 hours to rise in response to sepsis. A normal
E ileal perioration can occur due to ischaemic
value in the acute situation does not exclude
~
.!:
hypoperfusion; milk curd bezoars are rare causes
of perforation but are reported
sepsis
• IL-6: not yet available clinically, but more likely
,.; than CRP to be elevated early in the presence of
8' infection
e
~
Q3. Is any other management indicated?
• Urea and electrolytes. lactate, ammonia: clues to
inborn errors of metabolism
Ql Babies \vith shock from any cause, particularly septic • Echocardiography: to detect congenital heart
Z disease
shock, have" high mortality and need full intensive
nne SlIpport and monilori ng with ilggressive treiltmelll • Cranial ultrasound scan: to detect intracranial
8''"
;IS soon ;IS the condition is recognized. Assessment bleeding but not a good technique for detection
of acid-base and cardiovascular status is urgent, and of subdural collections and will not diagnose
o ventilalOry support is required whilst all attempt subgaleal bleeding either. For this, careful clinical
~ is made to €lucidate the cause and offer specific
examination and serial head circumference
c: treatment. Milk feeds should be slopped in case of
measurements are helpful
o inborn error of metaholism and because an ill baby
Ql
Z will not absorh feeds, which may calise vomiting and
aspiration.
Management
Intrapartum antibiotic prophylilxis is a proven
Group B streptococcal (GBS) effective treatment thaI can interrupt the vertical
transmission of CBS infection from mother to baby.
infection
Intravenous penicillin 3 g should be given ;IS soon as
ells is a common vaginal commensal, which causes possible afler the onsel of labour and 1.5 g 4-hourly
seriolls early-onsel diseasE' in about I per 2000 births. ullliJ delivery ill women whose babies are at high risk
Hisk f"clars for early-onset GKS disease i nc1ude: of acquiring early-onset CBS disease Women who are
• Prematurity allergic to penicillin should receivc cJindaJllycin 900
• I-Ieavy vaginal carriage mg inlrJvt'nously 8-hourly. The cu rrelll UK gu ide! ines
• Prolonged rnembmne rupture (more than for intrapartum antibiotic prophylaxis adopt a risk
18 hours) factor·based approach; scrcening for CBS carriage
• Maternal pyrexia at 35 wccks has been adopted in some rountries
• Previolls afkncd baby (mother h<ls no antibodi(~s. hUl is not endorsed by the UK n;uional screening
378 usually i1gainst type III CHS). committee
@ http://www.gbss.org.uk
It is import<1l1t to remember vir..1 infections
including herp.:lo virulo. Ilot It:ast because aciclovir can bE-
Group B Streptococcus support group. an excellent a Iife.-sa\oing lfe:ltmelll. 'think of congenital candidiasis
source oltnfomlat,on, including leaflets lor parents
in prelerm babies whose mothers have a history of
chronic vagill,lllhrush and who had cervic-al cerclage.
....
(~'" http://www.nsc.nhs.uk
UK natIOnal screemng committee
or who became pr~gnant \\ith an illlr.luterine de\'ice
filted
Babil'S with septicaemia usually jHe"t'nt wiTh nDn-
sp£cific loigns such .l~ poor f«ding. moulin~, lethargy,
...,
(~'" hltp:llwww.rcog,org,uk floppiness apnoea and temperature inslabili", 11lcrc
Illay be lachypnoca and lachycardia. QUlle often Ihero;>
The Royal College of Obstetricians comprehensive
is an ilem, \vi,h feed intolerance. dil,:ned loops and
guideline on GBS. which is enclOl'Sed by the Royal
College of Paediatncs and Ch,ld Health and the Royal abdominal distension, and these sil-;J1lo call !w preSt.'11I
College of Mid\Ylves in the UK L"Ven when the diagnosis is not f\1"C.
'Ire,1l1llt:111 of sepTicaemia depends on accuraTe
,\·10st babies with early-onset. ells disease present identification of the organism and ,lpproplLIlC usc of
soon aftcl' binh and virtually all pTl,::.cnl within 12 hours. antibiotics,
Sign~ inrludt, r.tist:d respiratory rail', gmnling, ;'lpnoea,
poor feeding and mottling, and the disease can progress
very rapidly 10 shock and death, 'n1C lllort"lily b still
Meningitis
around 101l;'ll
Jhink of meningitis in b<1bies with silo\ns of 'Oeplois
who arc irritdble, A full fontand!e ,lIId :.~iz\lfes are
lale loigns, and lIIt:ningilis should be diagnosed with
Septicaemia II' before Ihis siage is reached. LP is .In essenlial tool
Apan from <..;HS, bablE'S can acquire a bacleraemia from in the diagnosis of meningitis, bUI il is knuwn th,lI in
an) one of hundreds of potential pathOJ\ens. Sepsis in about 15% of {'a~ th~ blood nlhure does nOI yield
the llt'OlMle il> w,u,llly C31t'gori:r..ed d~ 'early-on!>el' and the organism.
'Iale-onset' TIle nornul \\ohite cell COUIll in noonaTal C,..,I is
Early-onset. higher than al uTher Times of life, and in geller,}1 COUIllS
• I're5ellll> by about 48 hours of age of up to 30 per mm 1 are considered to be within the
• Is c<lused by organisms acquired from the binh normal range. Diffelelllial while cell (Ollnts in C"il do
onal or occasionally transplacentally, e.~. CBS, not help to dilolillguish bacterial from vir:t.l meningitis
E, wll, I.i:.U'I·j(1 1I101'lOL"'Ylog.me~ in Ihe newborn. If there is a high white cell count and
no organisms are seen 011 Cram st<lin in CSI' frulll :l
Latc-Ollloel: baby who h"" not received antibiotic trC:lTmelll, think
• Prest'11Is afTer 48 hours of age of vir:!1 meningiTis and start aciclovir whilst awaiting
• Is usuaJly caused by organisms acquired from peR for herpes virus.
the cnVirUllillClll or Ilosocorni<tlly, e.g. MCllillgilil> tMrit:l> ,I signifi.-alll risk of hr.1in dam;\p,e
m
-
OO:lgll]"w-npgaT;ve ~taphyl()co('('i (CC lNS), ;\ncl treatment mliSI be carefully monitored, Brain
S/(lpltl'!OLOCCII5 llllrPIIS, E, coli, Kle/)siellil,
inl.lging is ilnportilnt in order 10 del!..'Ct \'cllIriculomegaly
E,l/efl)Uade" SelTiJlja, Cill/}bil~ler, Aurl/!'lllbtider,
1'sl'udulIlmws, emu/ida spp and oth~r fungi, or
and abscl,'SS (furtu!l,ltdy rMc), and I'LL (;11\ help in
prognostication
C)
viruses.
J:
l:xc~ptions to this paltern of Jcquisilion and pre- -I
scnt.Hion include: Eye infection
• l.dlc-onset CBS
Stid)' eyes arc (OIllIllOn in babies hm <;enous ('\1:'
• Ilerpes simplex infection
infroions are rare The management depends on the
• Cllllllllp/ia infection
• Congt:nil,,1 candidal and other fungal infenions. organism, and an attempt should be Illddc to idenlify
Olwmr,Jill b('(dll~ thilo may be 'maskl'tl' hy lrealment
Infections Gtuscd by Ihcscorganisllls may be tlcquired with topical chlnramphenicol and requires systemic
at birth bUl present late.r. Anaerobic baoeria may also treatment with erythromycin (plus tetracycline eye
bE- a causc of sepsis, usually in association with bowel drops) in order to treal any associalt:,<l pnt'lllllonia.
patilOlOJO'. Siaphylu(,()(,cill infeoions are Ihe most common. 379
Mild infections can be tre"led by cleaning with sterile very quickly, it is imporlantlo consider this as il diagnosis.
sa.linc. but if cultures are posilive and discharge persists, parliculMly when there is " profll"~ !)urulent discharge
topical anlibiotia. should be used. ChloT<'.mphenicol or wry early in lif€. 111E' current recomm('nded treatment
neomycin eye drops<lresuit.1ble Conococcalophth<llmi<l is with intravenous ceflriaxone; the baby and mother
remains rarc bUl bcc.lU~ lhe corneal damage can occur must be isOltited.
~
o
o
1;;
to
o
Ql
Z
380
Breda Hayes Thomas G, Matthews
Accidents, poisoning 50
and apparent life-
threatening events
Accidents 395
Poisoning 397
Sudden unexplained death in infancy (SUDI; sudden infant death
syndrome, SlDS) 398
Apparent life~threateningepisodes (ALTEs) 399
.. •
• Understand the contribution that accidents make to childhood death and disability
• Know which children with head injuries should be referred to hospital and what the
indications are for brain imaging
• Understand the management of the common causes of poisoning in children
• Know and understand the risk factors of SUDI and how to minimize risk
• Know and understand the mechanisms by which a child may present with apparent
life-threatening episodes (ALTEs)
• Know the appropriate advice to give to parents whose baby has had an ALTE.
lllake up 2')% of lO'nwrgrnry department visits for

Accidents (seealsoCh 17)
m
Injury is the principal Cdw,e ofchild death in all dt:\~loped
countri~, accounting for allnnsl 40% of df'ath" in the
:l.&'f' group I-IS ye.llS (Iable SO.1). In the dC\'Ciopcd
children .1ged 0-5 years.
In general. .1cciclent CoIUs<111011 varil;':S from cmlllll)'
to country ilnd L""l-Cn within cuumries from region 10
regiC1n, as accidents depend on living conditions ,llIJ the
-
C)
world, ro.,d traffic accidents account for approximately
41 % of all injllly-relatoo de,nhs Taken togelher, traffic
surrounding em;ronment, both indoors ami outdoors
Ilow€\"Cr, in all countries Ihe va"t mal0"'Y of all
::t
:lccidl'nls, intenlional injuries, drowninF;s, falls. fires, children's accidents im-olvp falls. with a snMller llumber ~
poisoninF;S and other 'lcddents kill morc than 10000 r..l,lIing to motor vehicie ,1CciJellls, fires, t]rownings,
childrl.'11 c\,-cry yltar III <kveloped countries. In dewlop- forcil{n body ingestion ;lIld IXli-.oning. A child's risk for
illg countries, an estim,tled I million children under spt.:cifir cau~e<; of in]lIl)' i~ linked 10 d€\"Cloplllental a!'le,
15 die each year from injuries. with studies showing differences in rale~ by i-l11omhly
l'or each death th~rt: is <i very much l.1rgi"r number intervals for children aged 0- J YCM~. Boys art' 70% more
of T1on-f.1lill iniuries, tl":lU mas and resulting dis.1bi Iities. likely to <lie by injury than girl"
Annually about 10% of children suffer an ,lCciJent Although it is tme that child Injulyde,ltll r<ite,\ 1I,lYe
necessitating contact with th~ health ~rvice<; A,cidenls been f.lliing for more tlMlI twu dccad~s, thert' IS fllrther
395
Table 50.1 Causes of death in chitdren and young people
Top three causes of death 0-1 year 1-4 years 4-15 years 15-24 years
Devoloprnootal and geoet;c Accidents Accidents Acdd9nts
problems pmsent at birth
50
2 Sudden unexplained death Developmental and genetic c,~ Ilomicide
in infancy (SUDI: slKk1efi problems preSC1lt at birth
infant death syndrome, SIDS)
3 Prcm<lturilyllow birlh weigllt Corx:er Homicide SUICide
room fOl' improvement. Sweden h,lS had intensive Cerebrospinal fluid (CSFl from nose or eM
child Ilroteniol1 progrill11meS running for over "IS - Black eye with no il~social('d 1T:lulTla arollnd
ye:HS J.nd hilS the lowest child injury death rale of any eyes
country, llmising behind one or both cars
The bmden of<lccidental injury is disproportionately Visible lrilumil to sralp or skull.
heJ.vy on the most disadvilntaged, Children from the
If the child is sent home, a reliable caregiver should
poorest families arc more likely to die from accidents,
be in charge at home Jnd be givcn <111 instruction ~hect
1O he admitted to hospital and to be aJmiued with
for observation and for when 10 return the child to
more severe injuries. 'Ihe likelihood of a child being
hospital.
injured or killed is associated with sin~1c parenthood,
low matern,11 education, low malcrnal <lge at birth,
poor housing, brge f<llllily ~i~e, <lnd parent<ll drug or Investigations
alcohol abuse. Skull radiography has no role in the evaluation and
Accident prevention programmes need to be multi- management of head injllly. If llcuroimaging is COll-
faceu'd and to include poverty reduction programmes. ~idered necessary, then computed tomography (CI') or
Accident prevention is discussed in detail in Chapter 17, magnetic reson:mce UvlR) brain imaging is required.
NICE recommends lhaturgent cr brain imaging should
be lJl1dert:lken if ,my of the following featllres is present:
Head injury • CG<; < 13 at any time since the injury
• CCS 13 or 14 <It 2 hours after the injury
Millor closed he<ld injury is one of tbe Illost frequent
• FOCillneurologiral deficit
reasons for visil~ to a hospital. Oilly I in 800 results
• Suspected open or depressed skull fracture
in any serious complications, The l'JationallnstilUte of
• Any signs of basal skull fracture
Clinical Excellence (NICE) has described algorithms
• Post-lraumati. seizure
for referral to hospital and investigation of hcad
• > I vornitingepisode
injuries. The most recent recommendations for referral
to huspital for further Jssc~sll1ent include any of the
following:
...,
(~, http://www.nice.org,uk
The CCS and Ihe AVPlI scales are described on
• Glasgow Coma Scale (GCS) < 15 (p" 308) at any
page 308.
time since the injUly
Ik,ld trauma Illay be d1l(> 10 dlild abuse or serious
• Any loss of consdOllsn{'ss as a [('Sllit of the
neglect by a parent or caregiver. In all Clses a thorough
injury
history should be obtained of past injuries and of
• Any focal neurological deficit since the injury
circumstances surrounding the present injury,
• Amncsia for events hefore or after the injury in
children> 5 years
• Persistent headache since accident
• Any vomiting since injury
Road traffic accidents
• Any seizure since injury While uncommon, motor vehicle accidel1ts account
• Any previous neurosurgical imervemions for 400/(1 of all fatal accidents in children, [11 lhe
• High-ellergy hcad illjuries (e.g. beillgstTLlck by a J1l<ljority, the child i~ <I pede.,trian hit by oncoming
car, fall from a height) traffic. In the remainder, lhe child is a p:lssenger who
• Suspicion of non-accidental injury (Ch. 37) is usually unrestrained or improperly restrained, Motor
• Fi nding of irritability or <lltereJ behaviour since the vehicle accidenL\ arc IllOTe romlllon in underprivileged
accident overcrowded areas wilh a lack of pl:lyground spJ.ce.
• Any suspicion of skull fracture or penetrat ing head Adequate adult supervision is essential if childl"en are
396 IllJury: outdoors, especially if there is a.re~s to passing tr:lm..
Child s.1f~t}' in (ars n~ed~ to he a(tclrf'~wd All cars remainder, wllh analgesics, cough productS, antibiotics
should be fitted with correct backseat child restraints, and "itamins being the most common Mor~ thall
G\H:fuliv ~k'CtLxl according to the child~ weight. height 75% of paedidtric puisoning e>.po"ur..:s tan hl' tre:lltX1
and length <;jt'at hdlS art' de.iglled for peoplt' 5 fool 1311 without dire" medical illlervelllion hee:ll1w eilher Ihe
and over Recommendations state that seat belts alone product il1\'oh'Cd is not inherently IOxic or the quantity
are in.ldl.."quatc until approximately II years of age. im'olycd is not sufficielll to producc significant toxic
effect~ Death from :tCUIt' poi..oning in children less
than 10 years has declined dramatically in Ihe last
Drowning dCGldc. TI1C t\\"o 1110"t important fanors haw Mn
Drm''Oing IS r,mked third o,-erall as a GlI1W of accidental child·resislalll containers and liS(' of s:tf~r medicines.
de.uh .lmollg children up to the age of 5 Incidence is
dm.dv rda((.xlto climate,. time of ymr and gl..'Ogl<lphiQI
Management
7.one Tnddl{"rs account for Ihe majority, with a '>ffond
small~r peak incidence in adol~nc~. At all ages males Detailed hi~tnry, if possible doculTIel1tinf; magnitude
arc marl: ,II ri:.k. Infantile drownin!', mainly ocrurs in the of exposure, timing of exposure, progression of syllll}-
halh Ollldoor pools <Ire the major site:. of <lccidel1tal tOIllS <lnd IllcdiGlI history, i~ vltal III tkH.·rrnine risk
drowning in toddlers. Children with epilepsy are up to C,()ll:.ult.1tion with :l poison control centre mar JSSiSl
four tiJlll::' <1~ likely to suffer a drowl1in/o( incident. in identifying "ctive components within ,1 plOJUct <llld
Imnwdi,1le and effective Glrdioplllll1onary resllscit<l· likdy :.ick-dfICcts. [ffurthcr !llilnilgeI1H'nl i~ required, it is
tion (CPR) is the I.1rgest determinant of OUlcome. [am generally divided inlo two pans:
minutIC lIMt pa:'>,~I.."S prior to implcl1lClll<ition of CPR • Gl'/l('r<lIIlIll/llI,~em(,JJI, Supportive C.He is ~i\'l:n, with
drafll,ltic,Illy reduct'S suryiyal anti long-term Oll1COme. Of managclIlclit of airway, brealhing ilnd cireul,llion
near drowning victims with cardiac arrest ,..-ho received and avoid,lnee ofhypoglycaemia.
preho:.pit'll CPR. only 7-21% ,~ill be neurologically • SM,-inc J/l1lI1Q,IWIf,,'fJ(. lhe Americ.ll1 Ac.1dcmr
int,let \t'lIldgemt'nt is sUPporli\"t~, with attention to ofToxicolOfo;Y and the European As'>OCiation of
lung aspiration and hypothenni3. ~uper\'ision of Poi'iOlls (enud and Clinical Ibxlcologi~l.~ have
childrcn ,\found water is essE'lIti,lI. Installation of pool r("lcased statements that the routine:- adminisuation
fencing ha.' been shown to Ix: effeeliw in pren'nting of ipl..'Ctlc Syrup or other Qthartics is not endorsed
more th,m "00-·0 of s\'Iimming pool drowning~ among '1either do lhey suppOrt gastric lavagf' or ,,'hole·
young childrl.'n. body I.wage, except in extr~mf' circumstances
Administration of aetivaled dlilrCtldl should be
Swallowed foreign body considered as !>uon as possible after emergency depart-
ment presentation, unless the agent ,wd qu,l1ltity are
l're~chool children commonly ~wallO\.... coin". toys known to Ill: non-toxic. the agenl i~ known Ilut to
and ston~s. '1 he majority pass wilholll complications. adsorb to aetiv;\ted charcoal, or the dl.'lay has bccn so
However. oesophageal hold-up requires urgent long thJt absorption is probably complete.
endoscopy. Sharp and long objects tlr.. th(' mosl likely Antidotc!> "rIC available for only ,I lim;tl'd J1lHnber
to cause perfor:ltion. Abdomin:ll pJin :lnd tenderness of poisons, I:nhancing excretion is useful for only a
Jnd failure 01 .ul obiect to progress radioJogicJJJy in 24
hour~ Me ""ch independent indications for evaluation/
endoscopy/surgical evaluation.
few toxins. I'ew druf',S or toxins arc removed by Ji,llysi!>
in !>uffickllt amounts to justify lhl: difftclJltic~ and
rbl..:. of dialysis in children, mood level~ are import,lnt
in the management of poisoning with p,uJcetamol,
-
m
C)
Poisoning
salicylalcs am'! ilOlI. For other intoxiGHlt:. qtMIHifying
1C\"Cls rna)' hC'lp in confirming the dmgno:.is but will
J:
Morc th.m 50% of all poisoningi occur in dlildren not alter Ire,lImeOl -I
5 rears or }'OlInb>cr. Almost all ar(' unintentional!
accidental, with illlentional poIsoning b«omlllg more Paracetamol
comllJon in the female adolescent More than 85% of Paracetall10l is the most widdy USl..'d dlildhood analgcsic-
toxic rll:flCKlIrt-'S in chiloren ocmr in Ihe child's home. and antiPJo'Jl·tic. Unintentional paraeelamol mudose in
USUJlly during Ihe day and more commonly during children i.lrely GlllSCS illness or dealh This may be duc
school or public holidays. 1\t0!>1 invol\'C only a single in part to the immature cytochrome 1'450 (O'Pl CIl.lYlIle
~uh~lanct". Aoollt 60% im"Olve non-Illt..d icinal dmg S)~telll in childrcn.Fa!>ting is it risk factor, l)(Nihl}' because
prodUClS, m~t commonly cosmetics, deamngsubstancrs ofdepletion ofbepaticglUlJthione reserves. Concomil.1111
and h)'orocarbons. Phamlaccuticli products comprise the usc of other drugs that induce a'p cn.lyll1(o::" such as 397
anticpileptics (including c,ubamazepine, phenytoin, or difficulty handling secretions, the ilirw:ty should be
barhiturates dC.), has abu b<:<:11 reported as d risk factor. directly visuali"ed by bronchoscopy or laryngo~copy.
The aelile toxic dose in children is considered to be Signs of impeding airway ohstruction due 1O mucosal
200 mglkg. oedl':ma are an indication for eleclive intubation. Signs
Anurexid, IMused, vomiting and diaphoresis arc com· of carbon monoxide poisoning include headache,
man in the fir~t 24 hours. If a lOxic dose was <lbsorbed, confllsion, irritJbility and visual ch<tt1ges. J\l1<tn<tgerneJlt
oven hepatic failure develops o\'er 24-48 hours, peaking includes blood rarboxyhaernoglobin level (1IbCO),
at Mound 72-96 hours. In massive overdoses, coma and haemoglobin level, arterial pll and urinalysis for myo·
metabolic acidosis may occur prior to hepatic failure, globin. Treatment inrludes close observation ;mel
Damage generally occurs in hepatocytes, as they oxygen until the IlbCO level falls below 5%. Ilyperbaric
metaboli"e the paracetallloi. Ilowever, acute renal oxygen should be considered if there i~ a history of
failure may also occur. This is IISUJlly CJused by either roma or seizures, or persisrent metabolic acidosis ill the
hepatorenal syndrome or multisystem organ failure, case of a pregnant woman or neonate or for an IlbCO
Acute rerhll failure may also be the primaty clinical level gre<tter than 25%,
manife:'lation of lOxicity. Tn the~e C<lses, it is pos.<;ib1e that
http://omni.ac.uklbrowse/mesh/
the toxic metabolite is produced more in the kidneys
D011042.html
than in the liver. A blood level 4 hours post ingestion is
rak{'n and plotted 011 a nomogram to deterrnint:' whether European Association of POison Centres
antidoul treatment is indicated. Liver function tests and
prothrombin time should be followed daily in those
with pOlcnti<llly toxic Ievds. After large acute overdose
activated charcoal should be considered. In cases of
Sudden unexplained death in
definite toxicity N-acetylcysteine should be started as infancy (SUOI; sudden infant
.~oon a<; possible and has benefit up to 24-36 hours
after ingestion.
death syndrome, SIOS)
It is proposed to discuss ,\IJ [s after an introduction
Tricyclic antidepressants (TeAs) on SUDI, despite there being no proven link between
TeAs are <Ill extremely toxic source of poisoning in the two conditioJlS, primarily b<:cause both :ue
young children. The lowest toxic dose in the literature unexpected unpredictable events predomin<tntly
is 6.7 mgjkg. Overdoses of TCAs can cause coma, <tffecting well/healthy infants in the first 6 momhs of
seizures, hypotension, cardi<tc arrhythmias Jnd cardiac life, Both remain largely unexplained and ALTEs caus,:
arrest. Central nelVOUS system (eNS) symptoms occur considerahle parent<tl <tt1Xiely <tnd distress because of
ill children more frequently than do cardiovascular the frightening nature of the episode and the worry of
elTecr~. Treatment is direCled at r<tpid asse~srnent. a future SUDI occurring.
mon ilOri ng and support of vilal funrtions, halting drug SUOI is the term used for the sudden unexpected
Jbsorption, "nd treating CNS and cardiac toxic effecrs, death of a well inf<tnt occurring during the first year of
1\11 children should be mOllitort::d for <I minimum of 6 life (80 0/c during the overnight sleep), which remains
hours and many require admission to a critical care unit. unexpl<tined <tfter a thorough CJse investigation,
The mainstay of therapy is alkalinization. Intuvcnous including a complete autopsy, ex;,miniltion of the
administration of sodilllll bi<:arhonilte is the prt:'ft:'rred death scene ,md review of the clinical hislOl)'. III
treatment for hypotension, shock and arrhythmias. developed rOlllltr;es Sf rOt is the most cornmon cause
Ilypotension is a poor prognostic sign. Blood I'll of de:lth after the neonat<ll period in children less
should he monitored and should he maint.ained than 1 year, with the peak incidence between 2 dlld
between 7.45 and 7.55. More specific dmg therapy, 4 months of age. SUD! is all unexplained death Jfter
cardioversion or artificial pacing m,ly be required for inwstigation and is a diagnosis of exclusion. It is
refractory arrhythJllia~. Befur<: the child is dj~charged possible that. ill aboUl 50% of cases, incomplete casel
from the hospit<ll, stf<uegies to reduce the risk of future postmortem investigations hav<: been performed <tnd a
poisonings should be discussed with the child's family. cause of the child's dealh has been missed.
Epidemiological studies have idelllified the pl'One
Smoke inhalation sleeping position and maternal smoking dllfillg preg-
Referral for assessent after smoke inhalation is common nJIlCY <ts increasing the risk of SUDI, and 'reduce the
after home fire~. Physic,,[ examinJtion, looking for risk of SUDI' campaigns in most developed countries
signs such as singed hai r, facial hu filS and CJ rbonareous have led to d drarnJtic decrease in th<: usc of the prOlle
sputum, aids in determination of extent of exposure. if sleeping position and an <tssociated reduction in SliDI
398 there is hOJrsencss, stridor, increasing rL'Spiratory distress incidence over the last two decades from 2 to 0.6 pcr
1000 IiV(' births in Ireland. 11lis f,lll in SlIDl rates has jUl epb{)jJo! IlwI is fngllllmmg w rllf' ollSl'1wr "'lfJ /1111/ iJ
resulted in the numocr of SUDI dealh~ falling from c/Jl/r,lClt'riz.:d by SO/llf' wmbi11111ioll ollllln<-"'f'" (tl'lllr<ill.r
aDmit 1')(110 4') per year in Ireland, with no diagnostic OCC(/SlOrlclJlr OJ>SlnJClWI'), colo"r d"lll.l~r (IUllll/1y ".moli, <'f
tr,lnsfer, and the overall infant mortality rate falling /'Jil/i,l bUI v..(<ISio,,,,Uy erylh<'ltltlWIlS or "Jell/oric), "",rh.>,1
eh/mgt' ill lUusdr IO//{' (llsu.illy lJ/(/rke,llll1lpl/ffi), ,IUI/{lllg Ilr
by the same amount. :--'1alemal smoking "ncs have
g(I>~~lIIg
declined only slightly owr the pa~t feo.'" }'E'.lI'S, lE'aving
smoking in pregnancy as Ihe maior current SUDl risk Essentially, such a brodd dt'finillon can include
f,letor in \,'cstern countries, with a clear dow-rc,>pollSt': an)' lInexpecled frightening (>pisod(> in an infant. Most
effcct t:\<idfnl (this includes the number of cigarettes [ypically, ALI I.: episodes occur in the first fl'W llIolllhs
smoked by the mother and the number of smokers in of life and ,ne mostly reponed dunng IhE' day, as
the illfanf~ environment). caregiver:. are present and the (>\12:nts ilrc witnessed.
SineI:' tht' recent dramatic reduC110n in SUUI rates Infants are usually well or only sliJo;iuly lIll\\dl bdore
other epidemiological factors increasing the risk of and after Ihe (.'\'eill.
SUDI have bcen sought. Risk factors include: Some h<lhies are described as being groAAY, Iloppy
• Social deprivation. or quiet and not themselves for a kw hours "fter the
• Infant parelll cosleeping. Sh.uing an adult bed for episode, nle level of resuscitatiun reqLllred dictates the
the entire night is a well-rLX"ognized ri~k faclor and level of w(my regarding [he possibility of Sli DI OCCUn;lllo\
~hMil1g a sof" i~ cspeci<llly dangerous in .1 fU!llre episode, and althoufo;h tho.: lit(,l',llur(' ill Ihi.'>
• ,vI;'tlernalsmoking (risk of coslecping being regard is connicting and col1fu~illg. therl' seems to be
especially pronounced in infants of ~ll1oking only <l slight, if ,IllY, inrreased risk offutllTe SliDI in these
lTlotlu:rs) infants '1 hE' source of this confusion is cle,trly showll
• lnf.,nt soother use has recently been shown to have in the data from the Irish 'l,lliotMI SliDI 1~l'gi<;tl'r on
some protcctive effect if USI.-d every night. the relationship between a prior Alll.f,'pnocaflifcless
epl!looe and ~U[)I ·Ihe data show tlldt .lpnol..'ajlifdco;s
Dt:'lipile IllLlCh research the underlying a(>tiology
episodes were significantJy more frcqllt'lII among SIIDI
of ~lIDI remains unknown. It is kno.... n that SUDI
case; thiln among controls (12/114 (16%.) ~lIDI cases
inf,lIIts arc til;hter, with a smaller head (br<lin) size,
V<; 6/1419 (0.40.0) controls OR 2.81; CI. 1.65-4.76) on
th<ln gf:'<;l<ltional age.malChed controls al binh.
unimriate analysis. However, on l1luhi\'<triate analySIS
SUDI infJllIs also have demonstrJbJc histological
the odds ralio of 2.56 for subsequ(>n1 ~LJDI \"'as not
differences, probablr an in utero growth rcstriction
signiflGlnt whE'n adjtlSted for materna] age education,
rffen, in many differ~nt organs from lungs diaphragm
smoking, alcobol consumption, urinal)' inf('(1ion during
dnd kidneys to decrea5('d brain myelination and
pn.191anl)', :.ocial del)riv3tion, tog value of bedding..
increased brainstcm gliosis, especially ill ,Ircas crucial
problems in the last 48 hOUTS, absence of usual soothL'T
to <luttllllllnic/homcostatic control C;onsequently
use, (osleeping and being placed pron{' in tlw last sleep.
it <;eem~ likely that SUOI infants arc vulnerable in
TIle validity of continuing 10 add in the number of
situations where tht: br<iin's controlling/protectivc
variables included in a multivariate an,ll}'~b until the
sptt'll1!l (l'Hltol1omic splem) are hea\'i1y down-
variable AL:I·E bl.'cOl1lCS not sigllific,lnt is higilly debal<lble.
regul;'tted (as in quiet/deep sleep, which is more
Comel/uclltly, differenl authors h.we flublished lhal
prevalelll ill the pronc sleepi 118 posie iOI1 or ,1 (ler !lice])
thcre is either a slighlly increased (doubJillHl or 110
-
m
di.'>turb.II\("~/(teprivation), oflen with an added stre%
inrrea~ed risk of SUDI in inf,lllls who h,lw sliffert'd a
from mild intercurrent iII ness or environmental stress
prcviou:. ALTE, depending on what has heen included
such JS o\'erhe.lting.
In thc r,lrc ca~cs of recurrence of SIII)I in a family
in the lIluhivariate model.
An AI 11 is a common reason for ddmis.-.ioll ofinr.'l1t<;
C)
(6/1000 famlties with a previous SUDI), other genetic
disorders (e.g. central hypoVClllil,lIion s)'ndrome,
to hospitdl ,lIld IX).'>('<; a problem for p.,t'(li,ltriClans as to
what conSlitutes an adequate diagnostic workup and also
:::I:
mct.lbolic di'lOrdt,l"'l), a~ well as infanticide, should be
as 10 how thesE' inf.tnts and their worri\..'t.IIMrCllI!l !lhould -I
excluded
be manotgL'tJ. A careful hislory of lht' t'\elll, indlldmg a
detailed d(><;('rilJliol1 of the precipllating circumsLlllccs
the inf.lIlt's appearanoc, the amount 01 Icsuscit,llion
Apparent life-threatening emplO)'Cd ~, the carq~i\'cr and its dural ion, Wilt usually
providt· tht" IJOinters as [0 what may be appropriate
episodes (ALTEs) (sec ,Iso p 317) investigatIons. Awake-onset episodes, whetJler .t:.."OCia\(.'(1
In 1')Hb a ""-ational Institutes of Ileallh (LI~A) con- \\ith an obvious precipiLlting ~"\'t.'1ll ~uch as crying.
sensus conferenre on infantilE' apnoea and home \'omiting or gagging.. fit most neatl)' into the spectrum
monitorinp, defined an ALTE aSi of cyanotic/pallid breath-holding or reflex dnoxk !>Cizure 399
l}'pe of {'V('nt~ (c'h. 24), ll~U,ll1y <lltriblltt.'(1 to immilture rt':lpiratoly prohl~I11", In :l.(ldi,ion, lreating COR has not
aUlollornic/brain<;tem control. 'these are moslly benign, been shown 10 prevent recurrences of ALlT.s or apnoea.
sometimes with a positive family histOly, and arcdifficult Also givell that most infdllt~ ol..cdsionally reflux <lcid
tu lrc.at cfTL"Ctivd}'. TIIC 1)l~CIKe of <lnoxic seuures should stomarh contt'nl~, an inf,llll who has a massi\'€ o\'cr·
be obviou<: from the sequence of ewrus in ,he hislOIy, as reaction to a common t'Vem implies poor central
reflex-induced seizures in inf;mts are extremely rare. control.
~Q) SleCIl-rd,IlL-d CllbooL':.logicdUy fit 1Il0StllL'ally within
the realm of SlIDI with down.regulated protective
C'.onseqllcl1l1y tl1l"r~' i.. linlt· ~uPlxm in the liter.uure
for COR as the cause of either ALTLs or SUDI, making
>
Q)
reflexes (arousal responses to hypoxia or nasal ocdusion it difficult to justify the usc of diagnostic tests (nolle of
(J) are lIIuch slower during skep and worse again during \'vhich i.s either M'n..itiw or 'll)ffific) aimed .11 ~t.1blishing
c: deell slei'p) allowing otherwise nonnal infants 10 drift the presence ofCUR Also, theuseofthe varied trcdtmcnts
c: into slightly danRerous situations. The frequency of employed in trcJling this non-condition, whidl h,
~ poor phy..iulogical responses to noxious situations in

infa11l<; can Ilt' giluged from a "ll1dy of healthy 6-wttk
mostly a variation of nonnal immature physiological
developmem, is diffiruh to jusufy. Ilowt"\'tt. clinically we
~ old infants, conducted many years ago, where 40% Wcfc do occasion,111)' sec infilnts \\itll SC\uc and/or fl'CUl'Tent
~
';' unable tu l':.w.bli::.h .In ordl dif"o-'ay within 25 scronth of ALTE.s with thc l1I~t M"Vt'rc GOR, hoth probably indicat·
~ the onset of na'i.:\l ocdU'lion dllringslei'jl Giwn the poor/ ing poor central controlling me.:hanisms. where using a
immature background physiology. it is not surprising thickened feed may be juslificd.
C
Q)
that some infants allow themselves to drift into slightly
danb't'rou<;/frighlt"ning ..illl,ltions and pff"lCllt a~ an Alll' Seizures
iii0. Seizures are the second most frequclItly diagnoSt.-d
0. 'cause' of Allis in thc puhlisht.-d literaturl?, yet it is
m Causes rare that an 1\1'11. is prO\'Cn to be caused oya massi\'('
"C
c: synchronous cerebral electrical discha~. i.e. epilelY.>),.
m In children with Alll~ the faClOl~ dt.'SCrilx.-d below arc
111(" vast majorily of AITIs attributcd to a seizure arl?
(J) oftO;'n con~iderl?d .1<;.1 pO~siblf' cause
eithl?r cyanotic breath-holding or pallid syncopal
c:
c: episodes llrcath-holding attacks arc familiar to most
o Gastro-oesophageal reflux (GOR) doctors as non-epileptic t.>pbodc. uccurring in somc
<Jl
·0 (sec also p. 178) infants ,mel young childrcn as a consequence of either
0. A r..n·n! syswmatk ro:vi("w of the cau~es of AITLs a physical or a psychological hun (eh 24). Uiagnosis
<Jl
in the published liter,ltL1re reveale<l a remarkable is usually not difficult when a detailed history of tbe
C heterogeneity in the quality of tile published sequcnce of eveuts, with it clcM Iriggering eveFll, is
Q) lilerahH'O;' and diill4!1o~tic labds al1aclled to ALrE availabl~. 11,e <.eqllellce of events involves either crying
"C case~ (\1cCovern &I ~tnHh 2004). The fact thm, of
·u an initial 2912 papers. only 8 studies involving 643
or oreath-holding thai raises intrathoracic pressure (a
Valsalva manoeuvrc) sufficiently (0 disluplvenolls n::turn
~ infants could Ill' included ill the systematic review (lnd consequent ordii\C output. resulting in cerebr.ll
speaks volume<; as to 1hE' poor qu,11ity of this literature. ischJemiJ, loss of consciousness and SOJllclimes a brief
Even among the 8 papers used in the review, the hypoxic~eiL;u[,c, I:pilcpsy illlhc first (, months of life is
Jdiniliun of ALTE varied between the slUdies. as did rarc allli occurs ill tht: presence of major underlying
study lTlO;'thodology, making it difficul1 10 draw firm hr.1in problems, a" seen in scvere birth dsphyxiJ or
conclusions. Notwithstanding these limitations, this infantilc spaSlllS with hyps,mhythmia. Thc stark
literaturc revitw found the most common 'diagnoses' normality of AI] L infants. ollce recovered from the
reponed as 'c,iusing' All}" were COI{ in 227, followed eve11l, excludes Sl.1Ch a possibility.
by a seizure (n 83). lower respiratOry tract infection (n- P,1l1id syncop,ll cpisooe~, by contra,,(, (lre due 10
58) dlld unknown (n-t6?). However, it is particularly periods of asystole induce(l by a mildly unpleasant
important ill thi<; situaliol1 to distinguish between the ex~rience such as being placed in a bath Such infants
chance tempor,ll associ,ltion of twO eYf'llts (an ALT£ ha\'e been shown to develop periods of a~r'Stolt' of up
and dnuther cxtrcmdy COIllJllon event in infanL~, such to U seconds (norm"l i~ < 2 seconds) following vagal
as GOR) :md a c.lllsal rt:1ation~hill. stimulation by eyeball compression P.llJid syncopal
\Iosl inf,lnlS exhibit iOlermiuent GOR in the first attacks lend to fC,lturc e.strcmc pal1or. total limpness.
few 1ll0ntlls of life, Jue \0 immaturity of the gastro- thO;' appeMance of death and p...rhaps a cold sweat with
oesophageal ."llhinCll"r (p. 178). ltecl?nI studies have a rnpid return to normality, pfE'sumably once the hean
found no evidence for acid reflux euher causing or restarts and a circulation is restored. Ag.'lin, a brief
cxacerbatingepisodesofapnoca or oxygen dcsaturatiolls lonic-donic scil.urc, secondary to cerebral isch.1emi,1
400 or 1\111: or Sll 01. nllt there ;~ an increased incidence of and not underlymg epilep~', IS not unusual. Diagnosis
of these conditions is largely by history, management the literature would S"y th,ll the subSo.:qUClll ri~k o(
is by parclltal reassurance as to the bcnign naturc SUDI i~ ,It 1ll0l>1 2-,~ til11l'S higlwr Ihan ll\l;' tMseline
of Ihe epi~odes, lind H(>;ltlllenl (with atropine) SUDI risk II is important to translate this into an
highly specialized and not to be undertaken by the actllal fisk for parents; in nonsmoking Caucasian
enthusia~tic amateur. non·socially depri\led f.ltnilil..':'> the haM'line SlIDI risk
is abollt l/ROOO, so doubltl1g or trehling Ihis is still a
Respiratory infections yery low risk situation Obviously for smoking parents
Respir<ltory tran infections arf' the third most COIll- the baseline SUDI rbk r,mgt-os from 1/')80 ("lTloker) to
mon ·cause' of AI ITs in the published literature. 1/400 (most socially dis,ldv;lIl1agoo and.1 "maker)
The literature dead}' support:. the concept of ParE'nlS should be reassured that thl'sc CWlllS arc
infants having 'funny' episodes while incubating moslly the result of pour/illllllrlllUe ph}'liinlogy, with
an infectious disease such as whooping cough or infants maturing out of Ihe danger of recurrence in
bronchiolitis, often before other o\"ert signs of a maner of months. As a rough ~uide. 50% of\lI"L
infeClion. C'..onsequenlly Ihe pre..ence of an evolving infants will have d :.t-'Cond cpiSlXle, ",ilh 10% having
infection must ah"ays De considered [nfants who are reoming epi'>Odes Also thl? fad th,u vel}' fe", SUOI
incubaling an infection have been demonstrdted 10 cases h'1\'e a prior wamin~ ('\"('1lI (3.6%) ,lIld Ihal
be phy.. iologicdlly differ(>lll, nOt showing the normal the actual re,k of SUD! 1:; :.till "cry low ~llOlIkI twlp
sleep induced f,lll in core bodr temper,nure, for parent" cope. Imphilsi7ing the known fisk reduction
e>.ample, for several days before o\'enl)' becoming measures for SUDI also helps. as docs Ihe faet thai the
infeCled baby has esscntially sUI"ived the fiNt cpi'>(>t.Ie and is
Ilowever, a major probll'm wilh this liter,nure is the inherently likely 10 survi....E' a second, should one occur
tendcncy to diag,nosc a rcspir.ttory infection baS\.--d on Unforlun,l1ely Ihe IileralurE' on physiolo~kal tcsting,i
the prC"CllCc uf :.ll11fne,,", mucous)' nois)' bre<tthing or sleep studies in Ant infal1l::' generdllr supporls the
a wbITze, "II of whtch arl' e:xtremdy common in the conel?pt of immature underlying {especially sleep}
healthy inf,ll1t popul.ltion and are usually not due to physiology, without suggesting any way ofintluencing
an infection. Iinforllllltlh:ly there are no case control this or predicting recurrent episoJes.
studies sbm"ing mfeetions (rl'spirator)' or Olherwist') Pilediatrician::. gcnerillly take a pragm,ltic approach
to be more common in ALI'E infants th,ln in carefully 10 Ihe uS<' of cardiorespir,ltory monitors at home in
lIl"tched contrul..; C0l1~C4UCIIII}' we h.l\'c to rely on an AL.:rE infants. despite there being c\iit.lence that their
anecdotal I ilemtllr!? of ca"l? rl?ports use dol..'"l> 110t prevcnt the r<ll"t' ..ubsequt't1I occurrence
of ~L1DJ Monilors tlsed in th!? home tend to give
frequent false al.ums ,lnd generdtc cOllsiJcr<lhle
Other causes
parental anxiety and l>lrt'~~. Howt:'wr, if IMretHS are
IQrer causes of ALTEs. mostly single case reports,
already wry dislre~..ed by the I\II"F - for example. if
inrlude IlH'taholi<" or I.h::vdopmcntal problt'ms, car-
they tHe taking turns to stay awakc at Ilight 10 watch
diac conduction def~C1~ or llpp~r airway obstruc-
the baby - lhen lit .. usc of" monitor can help them
tion during sleep. Agi1in a careful history of tbe
[0 cope beller. Las)' acces" to lhe unit issuing the
evctll. ,\ dct.likd f,ltuily history ;Illd ,\ history o(
monitor is essential it thcre.He ,lilY isslle::. or worries,
the infant's preceding health and development will
and this i::. d l>crvkc p,\["cl1lS vallii' and rMely overuse
-
m
usu:tlly g,ive clues to an underlying problem requiring
All pilrents should bo: t,lll~ht basic re~US(italion,
ilm.:~tigatiutl. III rccurring AL:rEs (10% o( lht:: 100al)
whils1 being reminded that whatever thc}' JiJ th..:
inllined or f:lbrifalt'd episodc~ pose a diagnostic and
man:tgemcnt dilemma. often with parents dcmand-
first tilll..: workcJ ,lIlJ would proh,)hly do "0 ag"in
,....'edic<ltion lise fm t1nntmpnted apnoe.1, including
C)
in)!; cver more extcn~ivc in\lc:.tiK'l1iuns (or an infant in
rude good health (( hs 21 and 37).
Glffeine or aminophylline. Ius no evidetlcc base
and generally lIledk,IJiI".cl> and complicilles tht'
:I
manageme!1t without any proven benefit; it is best -f
"voided. Thl' use of·sleep studies' is properly an area
Management
for research iml..~ti)!;tltjoll and !/,cncrally acids little to
Management of AlTE.\ is made difficult by the poor- Ihe diagnoi>is or rnanagl?lIlt'nt of thl' infant
qualilY conllicling litl?mtllfe and often by the huge
parental anxiety engendered by the witne!»ing of tbe
apparelltllc.lr-dcath of their inf'llll. Undcrstandably. if Reference
a hl'ahhy infalll nearly dies, with no apparent cauS<',
M.-c.owm \K' Smiln \1Il1l 100 I ClUQ'q.r ,11'1' ·"1 Iif.·
then parents feel their b.1bics arc at a greater risk of tnrl?i11('lliIlR I"\TTlt~ i 11 illr.lIll~ iI ~"'l('lll.lIi{ r iC\~ A" hi ...."" ur
SUDt liMn if Ihis episode had not happcnt--d. II00R"\'cr, Di>l?o\.St' in r:hildhNld R'l: 10.:1 1 1(1.18 401
MaltllC\vs T 19n rhe i1l1lOllomir IW]'YOlIS ly~H'm -.1 role
Further reading lJ\ sudden infJlll death syndrome. ,\rchivt'l of I)j"ease in
Colrpnll..:r lit.. Irjo\<:IlS I \'1 UtJlr I'S >':1 al. 100.\ Sudden Childhood 67:654-656
unnl'l.lin<:oJ itlf,lIlllk,uh 111 t ....enty regions ill Europ€' ("<lse NatiollilL Instituu..s of HcalLh 1987 Consemus development
wmru! MuJ~, 1~1I1(l·t J63:185- l~l {onfncl\cc 011 inf,Il1lilc apliOCil and hOlllo' monitormg.
C.""rlllIlllll'C 011 h1lUlY. "lIlui""n t\GuJ.;mK uf I'<--.lialrics 1005 l'l."k'lrics 7:1292-299
f'ui,,,,, 11<:"IIllU[1 "' IIIl' hum.... ""...Ii.lInn Ill: 1181-1185
402
James C. Nicholson Matthew Murray
Oncology and 51
palliative care
Aetiology and epidemiology of childhood cancer 403
Principles of cancer therapy 405
Presentation of malignancy 414
Paediatric oncology emergencies 414
SUpportive care 416
Palliative care 417
Specific malignancies 418
Rare tumours 423
..
• Have an understanding of the aetiology and epidemiology of childhood cancer
• Have the knowledge to assess a patient presenting with a malignancy
• Be able to select appropriate investigations for such a patient
• Be able to recognize and institute initial management of common complications of
cancer patients
• Understand the principles of different modalities used to treat cancer
• Be aware of the short- and long-term side-effects of chemotherapy and radiotherapy
• Be aware of the indications for stem cell or bone marrow transplantation
• Appreciate the issues involved in the care of a child with a life-limiting illness, including
-
m
symptom control
• Understand the concept of the paediatric oncology multidisciplinary team.
You should also take this opportunity to ensure that: Q
• Your history from, and examination of, the patient enable you to make an accurate
assessment/differential diagnosis ::I:
• You can interpret the results of a full blood count and peripheral film -I
• You can interpret electrolyte disturbances secondary to tumour lysis syndrome.
Aetiology and epidemiology Malignancy is the mO~1 conHllon (amI' of de.lIh

in children in the 5-14-YCM age group and is second
of childhood cancer only to trallma and ,l(cidcnl:> between IS i1nd I') ye,Hs
Childhood canccr is rare and accounts for only 0.5% (I~lble 'il.l).
of all cancers, 'rlle overall risk of developing cancer in Very little is known about the aetiolOl,'Y of most
childhood is I in 600 and there arc 1500 new cases childhood canccrs. Inherited predisposition accounts 403
of childhood cancer in the UK each year, with a slight for less thiln 'i% of ("aw~ (lnd cllvirolllm:lltal fartors
preponderance of males. playa minor role compared with adults Lxamples
Table 51.1 Most common causes of death by age this fetal overgrowth syudwme. Around 10'% of G1Sl-'S
(England and Wales 2002) develop tumours, of which Wilms' is the most common,
Age (years) Cause of death and imprin1ing has been implicated as a causalive
COr.gerlital abnormalities mechanism, Palients wilh somc forms of syndrom..:s
Sudden unexplalrl(l<:! dooth in infancy (SUDI; involving aniridia, genital abnormalities, nephritis
S\1dden inlant death syndrome, SIDS)
and pseudohermaphroditism have up to a 50% risk of
Inlection
~ developing Wilms' tumour due to gelle alterations.
til Congerntai
NF~ 1 is inhcrilcd a1'o all ilut01'oomal domin;ln[ condi-
o Traurna/accidenh;
tion, ahhough many cases are new mutations. NI'-
"~> 514
Carocer
c,~
Trauma/accidents
1 is associated with ,1 risk of brain and spinal cord
lumours 4o~fold greillt:r than the gener;ll population
and aCCQUlllS for about 0.5% of all childhood cancers,
iii Congenital
c. 15-19 Trauma/accidents Low-grade optic nelve gliomas arc lhe most common
"0 hrain lumours seen, wilh;l WOO-fold increased risk.
"'~
ffi Congenital
Molecular mechanisms for the

'"o
Cl of inheriled syndrome.~ wilh a predi~posilioll for development of malignancies
oo c.w("er include familial Wilms' tumour, lIeckwith-
Wiedemann ( 10% develop tumours, of which Wilms' Molecular mechJnisms for the developmenl of
c i~ most ("(Jill mon) and Jwuroflbromalosis-l (NF- I, 40- lIIaJjgnancic~ all reLlle 10 the ahnalion in SHlIC1Ure
o fold gre:Her risk of brain and spinal cord tumuurs than or aClivity of genes Ihat perform imponant regulatory
th..: general populalion). functions of growth or differentiation of cells in the
normal state. Thcse may indude:
Inherited predisposition to • Mtltation or deletion of a tumour suppressor gene
These genes code for proteins that have negative
childhood cancer
regulatory role~ in the cell cycle. C'All1lplele loss
I~('tinoblasturn<l i~ the !lIost common example and of prolein function is required 10 initiale lhe
provides a suitable model for understanding the principles tumorigenic process and hence requires loss of
of inhcritcd prcdisposiLiun, having been linked to a both genomic copies.
single gene lools. lamilial retinoblasloma aCCOllnt~ for • Activation of;l 'prolo-oncogene', which then
approximalely 40% of cases and presentation is usually becomes an oncogene, i.e, a tumour-promoting gene.
Glrly (first year uf lift:) alld bilateral. Sporadic cases preselll This may occur through mutation or amplificalion.
later, <Ire unilateral <lnd are not associaltxl with a positive • Translocation of a gene to <I different locus ma}'
family history. Survi\"ors of familial retinoblasloma have a result in over-expression, as a result of juxtaposition
very high risk of dcveloping second primary tumours, of with a 'promoter' rL"giOll, or fusion with another
which ClSleo~,lfcoma is the most common. gell(> that creates an oncogenic 'fusion product'.
Ihese features of retinoblastoma were noted by Subsequent tumorigenesis is a multistep process
Knudson and led him to propose the 'two-hit' mutational involving the developmC1l1 of immortalizalioll of cdls,
ItYI)(Jthesb in 1971. TIlis S!<l1t:S [hal (wo mln;ltion~ are growth f;lctor aUlOnomy, inhibilion of cell (1eath path-
necessary in a cell for a tumour to develop In heredilary waysfapoptosis (programmed cell death), angiogenesis
cases lhe flfSl mutalion is germlinc while the second is and lhe ability 10 invadc local lis~ue~/l11elast"lsizc.
<;Qmalic. In sporadic cil~es two somalic mulalions arc 'luJllOllr-Specific acquired chromosomal :tbnonna-
required in [he same cell for a tumour to develop lities are seen in a wide range of solid and hacmatological
Knudson's hypothesis was confirmed in the 1980s with malignancies. \\'hilsl some of thesc appear 10 be random,
[he idem ificat ion oft he rel inohl aslom;ltlll.noursuppressor otllf'rs conform 1O recognized pallerns Wilh diagnoslic or
gene (/(131) on chromosome 13. Ht'tinobla~torna results as prognoslic significance. 'Ihe translocation t(9;22), result-
.1 consequence of two mUlations in the RBI gene within ing in the Philadelphia chromosome, was the first COll-
[he S0l11;11ic cell~ of Lhe retina. sislent cytogenelic ahnOnllalilY [0 he descrihed, occurring
In compMiwn 10 relinoblasloma, familial clusters in duonic myeloid leukaemia (eM!.) and in some high-
of other embryonal tumours are rare. For example, risk case; of acute lymphoblastic leukaemia (ALL),
in \Vilms' tumour, inhcrill."t1 GISCS ;Ire Lhoughl Lo
represent only 1% of all cases. Ileckwilh-Wiedernann
is lhe most common syndrome associated with \\films'.
Types of malignancy
Orgilllolllcg,lly, lUacroglos~ja, henlihypertophy, neonalal The most COIII111on childllood malignancy is Icukaemia,
404 hypoglycilcrnia <lml exomphalos are all features of accounling for one-third of cases, fullowed by brain
100 ~
!:I~ -
;2:1L ~--
o 5 10 15 20 25 JO 35 40
Years since dilgnosll
1- -
1992-96
1982 91
1972-81
1962-71 )
Fig. 51.2 Survival of childhood cancer IhItients diagnosed
in the UK from 1962 to 1996
(Cancer Research UK 2004)
Leukaemias 32%
Lymphoma 10% @ ht1p:/Iwww.ukccsg.org
eNS tumours 24% Association 101" Children with ufe- Threatening or
NeJrOb astoma 7% Terminal Condllions (ACT)
SofIlIssue sarooma 7"4 -lherapeUlic str.ltegies for chiJdhootl lll.,lligll.U1('ie,

'·.1rrs· wno.. 6" indudechemOlheTa(J)" raJiothcr,tpy ilnd ~urgery, alone
or in comhiniltiOI1. ( hemotherapy forms the core or
Bore llnOlfi 4"4
Irealmelll. for the m.ljority and carc is theh:fort- usu.-l.lly
Gem celll1l'11tUS 3'% coordinated by piled iatric onwlogi"h, \\nrkmg in
Rell11oblaSiOma 3% design,ned centre.. C><-'OKraphirill wmldt'rauom dirl.1te
• Jl'er ll.ml\r.i 1"4 the pro... i~inn of some Ire.ltmen\. mdudinj.; much of the
suppomw c<lre. in loe.-1I h~pitJI:>, anJ thi.. \h.-l.fnl rotre'
CarcWlonil a'l:llTeIiIoofra 3'!0
is highly devdopt.'ti in PilrtS Ofllw UK
t\ lllullidisciplinary learn 'lpprooch is central to
management and should includ.: piu...'tii,llli, onmlogi'l",
Fig. 51.1 Percentage 01 cases by diagnostic group, ages haellloltolQR,ist), surg,--"OIls,. IlCUTOMlfgt'OIl.., radiation
0-14 years, Great Britain 1989-98 oncologist .., "1:>t'CiaJist IIUrst'S for inpatient "nd Outpdlient
(Cancor Rosearch UK 2004) care, OIllrt':tch nurses. dieticians. play Ihcl.lpi,t... MJrial
workers. teachers dnd psyrho!ogi"h,
imd ~pillill tllmours, which constitute one-quaner of
r:t~es (Jig 'ill) All the other solid tumours account Prognosis
m
for45% of C<lS~, of which lymphoma, neuroblastoma,
rhahdlllllyollarcorna 'lll.d Wilms' l.Limour are the most
common e'xlr,l("rani"f solid tumours.
Overall cure r<.ltcll for rhildhood cmrn now exreed
70% in tilt: dcvdoped world (Fig ';1_2). There i.. d
wide variation between differcnt IUll.1Uur t}fw". I'or
-
C)
Principles of cancer therapy
example, tocolliLt'ti Hodgkin'.. di......I,t' i.. 011',--,<1 in wdl
over ')0% of ca~, compared wuh Mound lMu III
J:
I,nny illlo Inals and centralized treatment has been di.....eminaled neurobl.lstoma. The curn.:nl dlol.lll-ng(· -I
shown 10 be of direct benefit to ~tiems. In me UK. most facing oncol~iSI5 is to Jl....·dop allli '--'rnplo~ Ir(',ltllleT1l
chilJrcn tire nO\\ treated on national or international stfilU·llil..>s thai minirni:tA' long-term "ide dlccts 01
i>ludil:'S. coordinated by the Children's Cancer and tre-alrnent wnhom compromising cure,
Leuk.lcmia Group {CCLG} which wall prt-...·iollsly
Chemotherapy
knuwn ,tll the t1KCCSG and has clo~ links with the
Inu~mil.lional ~iety of Paediatric Oncology (SlOP). ChemothE'r'lpy is the mainstay of In.:dllllClll It)f llHY.'.1
@ http://www.siop.nl
types of paediatric malignancy. /\i,lllY (-ann'f\ pre"elll
as loc,tli/.t:d tumour massO's, bUI pre\"iou,> experience
International SOCiety of Pae<!ratnc Oncology has shown that 10c,l1 trealment with SUllo\Cry ,l.I1d/or 405
M Phase-SpiCIflC:)
Vinca alkaloids
G,
M:osIS Jo
"' tosis
,,"
eel dMslon
(19"1 l2"fo)
Cell cycle
5yntt>1lSlS of
,_
~_d
requted for
DNA syn:hesis
s~ (40%)
CyooO~
Ant 'T'!ltatxJjdjes., B9 C~le-spec(fit:

rrelhotrex.a:e lI''Oll~ AJO()'Ia:i'lg agE!fl1$,
~
_
r
e
e.9cydo~
Artbot:cs.
e.g adl1orrJ}'On 0
Fig. 51.3 Schematic representation of the normal cell cycle and action of chemotherapeutic agents
radiotherapy .llon(' is insufficient for cure and may • Interfering wilh Df\,A processing
resull in l.ller H.'(.urrCl\u.,:> ,II di~Ialll sites_ ror lhis • Disrupling mitosis.
rCdson, l11U" p<lticllI<; re.rive lo)"'temlc ITC<llmt>nt
111(' scl('oivil)' ofC)'tolOxic: drugs is dependelllllpon
wnh rh~rnotherapy a<; well .1'<; IOC:l1 lher:lpy. Ihis has
lhe fan lhilt in m'lligllilllCY a higher proportion of
resulted in .1 dramatic improvement in ovcrall cure
cells are undergo inA division dun in normal lil>sucs.
r,ltes in tIll' l.ll>l 20- OJ() Yt·<!rl>.
I lowever. Ihe differellce betwe('(1 an effective lreatmt:nt
ChemOlher.1p}' may he given as:ldjuvant trealment
dose and iI loxic one (the ther:lpeutir index) is often
(follQ\"in~ slirAcry). ncoadjuVJIH treatment (before
quite small. AgentS may be phase-specific (work ,It a
l>Ul'gt:ry) or bOlh. Combination (hempy is usually
particular phase of the cell eyrie) or work through all
employed In incrl'<Iw I'ffirilC)'. rnluce development of
phases (.yck'-slwcitic) (I ig. 'il.3).
resistance and limit single organ loxicily. In order to
Most common shon t('rm side-effects include vomit·
,let as cffecti"c lhclllolher,lpcutic agents, drugs mUSI
ing, mydosupprcssion, alopecia 'lild Il1ucositb. I.ong-
eillwr bllH" rei I rcplir<ltion or induce cell de:nh.
Icrm effcrts on organ funoion (kidneys. gnnads, hearing
'Ihe cell cycle itself is di\'ided into four active phases
and hean) are v:Hiable (BOX 51.1). Side·effects differ
- G 1, S. G, ,Ind M - dnd ,I n:slillg phase, c.~ (rig. 51.3).
depending on the agents employed; examples of lhese
!\fler 0:11 divi<;ioll, cell" enler C( or 'gap' phase and then
arc gi\'cn below.
synthesize UNA (oS phase) before ,1 second gap phase,
G,. Ccll~ ~ubl>equt:lllly enter ,'vI ph.-lsc, where milosis
Administration of chemotherapy
occurs, resulting ill cdl divi!;ion.
In J-ggressive tllmours, many cells arc actively under- CheIl10therdPY ~hould only be givell by fully lrained
going mitosis. gi\'inp, risc to a hiWI 'milOlic index' when individuals. aware of potential risks and complications,
Sl.'(tiOllS of Ihe'M.' tUlllmw. Me examined under the and working in centres fully equipped ilnd acaeditt..-d
mirroscopo? Ih~ tllmours are morc likely to respond to support chelilOlhertlll}' adminislr,lI;oll. Dosage
to chcmother.lpy th,ln slow·growing, indolent lUmours is usually cilkul;ued according 10 surf.lee area. ~'Iost
wilh il 10\\ mitotir index in which a large proportion ehemolhempy is adminislered illlravcnou:;ly; centml
of cells are in the GJ resting ph,lsc. venous acc~ i:. prcfcrrL'tI. 111C risk of exlm"C1sarlon
Almosl all current ajitents employl.'d inlerfere wilh from peripher<\1 veins is grealesl with "Inca alkaloids
rdl di"ision im!irtY!ly hy: and amhracydines. A number of agents arc given orally
• Dam'lging Df'A as liquids or tablelS, SUdl as ~Icroids. metholrexale and
406 • mocking 0'1\ synthesis mercaplopu ri ne in the'mai ntenance' ph<lse ofleu k.1emia
BOX 51.1 Side-effects of chemotherapy • rull blood counl (H3C)
• Ekctrolyles and liver fUllction
Short-term
• (;Iomerular filtr<ltion r<lte {Cnq me<lSUremenl
• Nausea and vomiting • Ile<lring tests
• Alopecia • EchocardiogrJl1l.
• Myelosuppression
• Mucositis, diarrhoea High-dose (HD) therapy and stem cell
• Hepatitis transplant
• Haemorrhagic cystitis
1l1i~ involve~ 'conditioning', which is the tlelivery of
• Nephrotoxicity/renal tubular leak
mydo-ablative doses of chemotherapy and/or 101;'\1 body
• Encephalopathy
irradiation to thc patiellt. 111is is follow..:d by reseu..: with
• Radiation recall
haelllopoietic .~tem rdls, whirh may he autologous,
Long-term deri\"L"<i from the patient him- or herself, or allogeneic,
• Cardiotoxicity for which the donor may be a sibling. lllatcll..:J uurdated
• Pulmonary fibrosis donor or occ.asionally luplo-idt't11iral from a p<lft'nt.
• Nephrotoxicity/renal tubular leak COlweTltional bone marrow lramplallt (11M"!),
• Infertility in which stem cells are haryested directly from the
• Hearing loss bout' marrow, i.s usually UIlt'l1 (or allogmfts. I\:ripheral
blood slem cell transplants (PI3SCI) are favoured for
• Secondary malignancy
autografts. Stem cells are harvcsted by Jeucopheresis
from periphcral blood using granulocyte colony
stilllulating factor (C-CSI') 10 mobilize lhem from the
trCiltment. Certain drugs (e.g. ifosfamide, dsplatin and bone marrow after priming with chemotherapy. After
mcthotrcxatt.::) arc givcn with concomitant intravcnous high-dose chemother<lpy, thew plurirolenlial Slem cells
fluids to minimize potential toxicity, Mesna is givcn from I~MT or PBSCI are reinfused intravenously and
with cyclophosphamide ilnd ifosfamide to protect the subsequently repopulate the marrow. Advantages of
bladder from haemorrh<lgic cystitis, <Iud folinic acid PBscr include Jess risk of tUlllour COlltam ination from
'rescue' is given with high-dose methotrexilte; folinic marrow affected by disease, more r<lpid engraftlllel11
acid is selectively taken up by normal cells and helps to (usually 2-4 weeks), less severe infections and Jvoidance
minimi.~c Illllfositis and other side-cffecL.., The benefit of <lll<l..:sthetic for harvesti ng,
of cardioprOleClive agents (given with anthracyc1inl:'sJ Indic<llions for use in childhood Ill<llign:mcy include
remains unproven, selected high-risk and relapsed Ieukaelllias (allograft),
high-risk solid tumours, including lTH'ta~t<llir neum-
bla~toma, high-risk Ewing's sarcom<l and relapsed
Intrathecal chemotherapy
tumours (aulOlogollS). The p<itient should be In remis-
Intrat hecal methotrexate (Lt. MTX) is used for treatment sion prior to the procedure for it 10 bc dTccti\'c.
or prophyidxis of central nervous system (eNS) discase C":allSes of morhidity and rnort<llity from stem cell
in leukaemia and non-Hodgkin's lymphoma (NHL) tr<lnsplant include grafl failure, infection second.u)' to
SafelY of arrangements for admi nistration of intrathecal
chelllOtherapy is p<lfamount because of the catastrophic
consequence of intrathecal administration of vin-
cristine, which results in coma and death, Department
profound immune suppression, l11uco~itis and veno-
occlusiw' d iseilse of the Iiver. Allografts caTty greater ri..k,
with <lpproximately 10% procedure-related mortality.
Graft versus hosl disease (GvIID) is d ]J<1rticular ri..k;
-
m
Q
of Health guidelincs now statc that administration of
i.1. mcthotrex<lte ;mel i.v. vincrhtine mUSl take pl<lce in
it may affen <lny organ Sy~l('l1l hw cOlTllilonly skin
and g<lslrointestin<ll system are involved. Ciclosporin
:I
separate clinical <lre<ls and at different times Doctors A is given as prophylaxis ,lnd steroids may also bc -I
must be trained, be on the intrathecal register and employcd in treatmcnt.
b~ of R'gistrar level or above. Some pharmacies will
not dispense vincristine unless they willless a signed
drug chart demonstrating Ihat methotrexate has bcen
Radiotherapy
given, and vice \'erS<l, Vincristine sllOuld never be gillen I~adiotherapy is the clinical use of ionizing radiation
inlTrllherally_ to kill cancer cdls. Dose and fractionation (number of
Monitoring for toxicity dcpends on the agcnts. us.ed tr..:atnlents to dtl iver <l tot<ll dosc) \'<lry accord ing to the
;mel may include lhe following during or bd\\"een nat 1I re of the tunlour and toler<lnce of the surroundi ng
courses: tissues. The tMget volume is delermined by size Jnd 407
type of tUIllOur and includc" a ~tlfely margin. Thc aim
BOX 51..2 Common side-effects of radiotherapy
i~ 10 deliver dft><liw Irealment to The target volume
whilst sparing surrounding tissues Acute
• Nausea and vomiting
51
• Cutaneous erythema/desquamation
Indications
• Diarmoea
It.ldiolh;>r,lp)' is in<licatcrl in selooecl C3S("S of Ilodgkin's • MyelosuppressIon
disedS('. neuroblastoma Wilms' tumour. soft tissue • Pneumol1ltis
tlncl Iwings s.lTconl.ll> tlnd most subgroups of CKS • Hepatitis
turnouTS.
Late
Sludk-s h.we shown only limited benefit in ostco-
~.lrflH'l.l, e>.tr,lfTtlT1ial g€Tm fell tumours and Nil!.. • Cardlotoxicity
In ll?l1k,u;>mi,\. r,ldiotherapy is limited to ueaunl?nt of • lung dysfunction
the eNS, to tcsticular discase and 10 conditioninF, for • Renal dysfunction
gl\ II (tot,ll body irradiation. 1111). It"dint herap}' is also • Musculoskeletal hypoplasia/asymmetry
l1~"cl for symptom mntrol ;n palliiltive (..He, e.g. bony • Hypothyroidism
metastases. spinal cord compression. • SpInal growth
(lrl'par,ilion for radiolherapy inc1u(1l'l>: • HYPOPItuitarism
• 1'1,1nning. hy combination ofcomputed tomography • Neuropsychological sequelae
(CI") .md magnetic resonance imas;ing (,\lRI)
• Cataracts
• Immobili&alion ming 1Il,,~ks/'lhdb., tattuos as
• Infertility
markl?rs, wdation or genl?ral ,1naesthesia for
youngest children • Second primary tumours (-5%)
• Protection of surrounding tit>sut.'s (eg gonads)
usmg It'ad shields
• Involvement of play therapislS, who have ,1 central
rolc in this process. Supportive and emergency care
• .'"'aoagement of the aCUle abdomen in nelliropeni,
Side-effects p3tient~ (patienls mar d('wlop neutropenic colitis,
also known as typhlitis).
loxicity of rddiOlheT<1py i~ potellli,ltecl U}' cerlaill ChelllD- • 1t1bed intracrani.JI prcs:.ure ('CI~) .1Ild spinal cord
thpT<lIW agel1l~, e.g aoinomynn [) or ,1nlhracydines cOll1pres~lon (urgent referral 10 neurosurgic.l1
Ibis may ~ive rise to the phenomenon of 'radiation cenlre)
rt.'f,11t \\tu:n thL'SC druKS arc uS(.-J after [;\djothcrap)~ • Most children receiving ch(,llIother,lpy will require
fdllSillg fllnher lLITlMge (0 tht' organ!tl:-.stles. Side-effe(1~ a lunnelled central venom line: l?ither a 'Ilickman'
C,ln be d.1Ssjfied as acute or klte and depend on the line or a 'l'ortacath'.
dose ,md site 10 which radiolher,lpy is given, as well
<1S the elge or
lhe p,-\lielll <11 Ih .. time of radiotherapy
(llox 51 2). L.1te effeCis of chemotherap}' may occur Problem-orientated topic;
months or evell yeiHs after lr('<I!lllen\, and arc usually neck mass
progrt'~sive .uHl irreversible
Jodie. an 11-year-old girl. preeent9 with a
painlei5i5 lump in the right 5ide of her neck
Surgery which wat> noticed 4 monthe ago. She hS5
Surgical interventions for solid tumours had two COUri5e5 of antibiotice with no
benefit. The lump walS approximately the
• Chemotherapy and/or radiOlherapy
lJj(>f'S}' OFI/)".
6ize of a broad bean when fir5t noticed but
may be curati",c without runher liurgery. eg
Ilodgkln·s di....aSt', "'Ill rhabdomyosarcoma has enlarged 5teadity. and a elmJlar lump has
genn cell tumours. appeared over the la5t 2 weeks on the left
• Rt'.'t'dit''', prim.,,}' (I[ j;,1I01I'I1Ig .·h0'7FlOlheTlIPf side. Jodie has 105t a little weight over the lalSt
(:ompletl?ness of excision Infhll?nces subsequent few week5 but ha5 had no other constitutional
m.'Cd for adjunctin: treatment (radiotherapy or symptom5. Examination reveale a firm. non-
chemotherapy). e.g. bone tumours. Wilms' tumour, tender ma55 measuring 4 cm by 3 cm in the
408 ht'palOhl.l~tom.'l and most C"'~ tumours. right anterior cervical triangle and a 2 cm lump
in a similar position on the left; side. Although combined wilh fewr and nighl :.we,II<;, IS partinllarly
she appears thin. there are no other positlve associated with Ilodgkin's disease (U symploms).
findings on general examination.
Rate of progression
t\ time.cilk of days 10 weeks is more sU~li\"C of NIIL
Q 1. What are the features pointing to a diagnos:s of
malignancy? or ALI, whils! Ilodgkin's disease lends tu progrt::.<;
more slowly and the history may sp.lIl many inDIum
Q2. What other informanon from the history and
examination would help in the differential
diagnosis? Characteristics of nodes
In addition to l>i,Ge anI.! presence or abM't1ce of tender
Q3. What is the dlfferenllal diagnosIs?
ness, Icxtllrf' (firm, hard. craggy, rubbery. soh, lIuctuant)
Q4. How should Jodie be managed? and mobility (fixed, lethered, mobile) llIay he hdpful
Systemic examination
'I-his may rl:'"e.ll evidence of a primal)' tUl1luurorof p.l1Im,
Q1. What are the features pointing to a bruising and/or petechiae, sugg<"'tiw of pantylopcni:t
diagnosis of malignancy? 1\ dlilJ wilh advanced dise<lse may look pille ilild non-
specifically lIllwell Presence of other p.l1pable lymph
En],lrgt'd e,'rviCilI nodes in children are \'el)' common; the nodes al all olher staLions and hepatospll.'nornegaly
diffErential diagnosis is wide and nl.llignandcs accouul should be WlIHnented on Supracl;tvicular or axillal)'
for only .1 very slIldll fr.lcLion of G1st,;. Howt-...~r, delay lymphadenopathy is more likely 10 rcfkct ,In under-
in diilgnosis llIay haw serious ad\1'rse consequences, in lying ma.lignant proo.'l>S.
tenns of extelll of disease, intensity of tre,ltmcnt rcquirt->J
and ultimate prognosis. so it is illllJOffillU 10 inV{'Slig;ue
G1SC> thoroughly if there are features suggesling the
Q3. What is the differential diagnosis?
po<;sibilily of malign,lney. Ilodgkill ~di~ .llld NH L may bolh present wilh cenica1
Suspicious features in this case arc. lymph41deoop<llhy. as m.l}' AIL Distant spread from o!ht-'J
• Ab!>CIKC of :.ymploms or signs of infection 10 solid m.llignancies is less common but nt-'\lroblil'ioIOm41
dCCOU11l for Iymph.ldenopathy
should be cotlsil.!crcrl and rtl41bdolnrosaK"oma and
• Weight loss mlsoph<1l)'ngeal carcinoma are also I"l'COI;nizcd causes in
• SiLC ,md eh,uarteristics of nodes ,,"odes:> 2 em childhood llodgkin's disease is lhe m()~1 likdy, giwn Ihe
in di:H1H.'ter are.l cause for concern and warrant age of Lhe p.llit-1tt.- the rdatiwly ~Iow progression and
consideration for biopsy. ll1is patklll hal> nodes Ihc lack of systemic disturbance that ,,"ould be St.'Cn
thdl Me sigllifi«lntly bigger than this and are commonly with ALLor Nlll.
prugre:,slvely enlarging. Although they are not Other po~sjbililk'S lO consider I1lrlude bacterial
described as fixed or rubbery. terms particularly infectir)l1, viml infection including cat scratch fever,
associ.Hed with llldlignanry, tlwy are firm and Ilon- toxoplasmosis, and rarely connective lis~ue dbord('l:. or
lenckr, hoth fealures consistenl wilh a di:lgnosis of KJ.wilsaki disease. Atypi,al mycob;teleria may produce
m;llignilncy_ large nodes in ~1Il othel'\visewell chi let that may be diHicull
Q2. What other infonnation from the

history and examination would help in
the differential diagnosis?
to differentiate and will need (completc) cx\ i~i(Jl1 hiopsy
(bolh to Lredt efk't"tivdy ;tnd to exclude malign:mcy)
Q4. How should Jodie be managed?

-
m
C)
Age Initial investigations
::E:
Of the malign,llIt causes. Hodgkin':. di~ease is more '1 hese should look for e'o'idencc of mediaslilldl and -I
li"el}' in olde-r childre-n, rarl:'ly occurring Mfore- the age intra-abdominal pathology, and cxrludt, other causes
of 5, whereas "IlL and All. are morc likely to be seen of Iymphadcnopat hr'
in younger chill.!rcn. Dissemillilll.xl neurohla<;toma is • (hest X-ray (CXR)
unusual in children over 5 years old • Abdominal ultrasound
• Full hlood collm and film: not \-ery discriminating
Systemic symptoms diagnostically, but if pancytOpenia is present, thi~
'1 he.e Illily help point lOwards lhe cauSt", whether points to bone marrow involvement <1~ pMt of a
infeClive or malignant In p.lnicular. weight loss is a malignant IHOC!:':'<S
common finding ill children wilh e,meer and. when • Viral serology. 409
Biopsy expiratory wheeze throughout the chest
Ihi... ~h(}lIld hI' :Hr<lngt·d without w<liting for <Ill the and some small 'shotty' cervieallymph
results of other invee;tigatione; in this patient, bec<luse nodes, none more than 0,5 em in diameter.
of the size of the nodes It should be an excision
hiop... y to rnaximiz..: th..: yidll of diaKlloslic material Ql. Why should this not be treated as asthma
and minimi;t.£ the nn'd for wcond-look i;urgery in the without further investigation?
C.lSe of .1typic.l1 mycobacterial infection. If the history
Q2. What is the dIfferential d agnosls?
wer..: orJ\'lIIph no(h:s th.1t were morc borderline in size
(eg I ')-2 em) and the above in\'esligations did nm Q3. What investigations should be performed?
suggest mJ.lign,lncy. it would be reasonable to observe Q4. What is your IMlal management 01 Naseem?
for 4-6 w..:cks ,lIId thell pmo:cd to biopsy if there had
been no rf'duction
Q1. Why should this not be treated as

Staging investigations
Further I1IdnJgelttettl.. if lIlali~l.nancy is confirmed or asthma without further investigation?
comldert"d highly Ii"ely, nMy include the following Anychild preseming for the fi~1 time with wheeze. 5('\'\."'1"e
staging investig.ltions cllough to nL'\.x! marc th,1Il simple brondux!ililtors.
• Bone 11I.11'1'0\\ CXdmin3tion (aspirate and lrephine) warrants further inwslig.;lIion wilh iI L'\R before being
• 1..1Imbaqlunolire (if 1\1.1 or NIIl.) wated as asthmatic. Simil.1r1y, any marked change
• Cl or MR.I.scan of chest and abdomen (not needed in pattcrn of whecolC in a knowll aslhnMtic ~houkl
if .'\1.1. contlnlll.'d) be investigalt"d. (:hildren wilh a mediastin,ll mass
• ISOlope &Cilns (tt>Chllt'lilllll or mlRG, meta- presenting with wheeze may ha....e clinical signs that
iodobenzylguanidine imaging), according 10 arc atypicdl for dsthnM but this is not always "0. 1l1C'S('
prillldry didll.llOsis include evidence of rom pression of the superior ven.l
• Kawlint:· fluoro<.koxyglllrose positrolll.'lIlbsion C:l\'a (p 41 :)), prolUl:terance of Ihe chest wall .secondary
lomogr.lphy (Inc.; 1'1 I) SC.lm may become to the tumour mass, unilateral wheeze, dTu~ioll, p.llIor
roUline. paniclliarly for Ilodgkin s dise,lSe. and pc...."("hiac. A trid! of stt'roid~ for a pre1>urnptivt'
diagno1>ie; of de;thm:t could bt.' cala1>lrophic in Ihe event
Baseline investigations and procedures of malignancy, panicularly Iymphoblaslic lymphoma
lla~line investigations and procedures prior to slaning or Icuk.tcllli" (NIH. or All.), as lifc-threatcning
trc.ltmcllI, rd.lIed to re'OKlli.lcd toxicities of chemo- tumour IY~l'" could he precipilaled I';tnial lr€,<llmenl
lhl'r:lPY. varying "ccording 10 diagnmis and regimen of Ihese conditions can also delay or prevent J,ccur.lte
employed. l'hey may include: diagl1osi~, ,llId Ill,tY illlpMt it wor...e prugnosis.
• Echoc.HdioW.llll In thi~ Cil'\t:". IIIC hi~lOry ::11011<' should r;lise smpicions.
• lung flll1rtiolltt·~" CI'h;s boy h:1~ experienced T:lpid proAression of his ainvay
• C H{ or cre;u inine c1ear:lI1ce obstruction with poor lesponse to bronchodil,ttors,
• AudiometlY WilhUllt a prCV;OlJ~ Ilj~tOry I,f astllll1,l. ·Ille presence
• Sperlll cryopl\'M'rv:llion. of small lymph nodes {< 05 cm] is not in itself
particularly helpful 'IS thc}' ,1I"C cxtn.:mdy COIllIll\J1l ill
children and r<lrdy ...ignitlc,1Il1.
respiratory compromise Q2. What is the differential diagnosis?
Naseem, a 9-year-old poy, has experienced Causes of mediastinal masses in children arc shown
episodes of wheezing for:3 weeks. steadily in Table 51.2, [n thb Cdse, the lllmt likely cause;~ T
increa5ing in frequency and severity. He is cdl f\.HI or 1\11., haSt·d on the shan history Civen
thie; hislOry. non malignant C.1uses arc unlikely.
now una pIe to sleep lying horizontally. He
Foreign body inhdlation could prCSCllt in this way,
has peen previou51y well with no hospital
although Ihe history would generally be much
admissions, no hi5tory of a5thma and no
shaner - minutes or hours rather than days or
family history of atopy. His GP has given weeks. Structural abnoTlllcllitics arc likely to have
him a trial of inhaled bronchodilat()r$ put presented in infancy rather than this Iall~ in child·
these seem to have made little difference. hood. IleaI'I failure may present in this way. after cl
On examination, he is a little pale with viral illness causing a cardiomyopathy, but would be
410 obviou6 dy6pnoea, rece6sion, marked extremely rilfe.
Table 51.2 Differential diagnosis of mediastinal mass in intensive care un il Cood intravenous access ~huulJ IlC
childhood
secured, ideally cenlrally, ~urh .l~ vi,) it fCIHorallinl'
Anler;()I' Posterior ·111C order of fun her ilwe!>lig.lI10n~;lIld management
mediastinal mediastinal
will be dicta led by the condition of the child, who liMy
MaliQr'anl T<eINHL' N<!llrotastoma'
be al risk of severe acute rcspil,IIOly f,lilllTe C'~utioll
ALL' Gar'lQiOnel'OOlastorna
HocIgkrl'3 et 3e<I9t::' Sw","" should be excrcbcd in I.lying any ~L1ch child flat in
Mubgnanlgt.'m ~ 1,JIl Ol.lf Phaeochr0ll'0CJ10lT'.a a scanner WilhoUI full anaesthetic suppan present.
Rhoodof'l)oo9tlfCOlfl!:l Avoid any sed:uion for SC.lllS in such <-hildrcn, i1~ thi:\.
____--=E:,,:ng~,~':~:..:~:..._---;cc:_:.,__.,__---- may rcsult in lus~ of "irway lOne and subsequent
Benigr' Teral'1ma GangIIor,EMoma r~'Spir:llary arrest
C)''5-': ho,g!:Yna $cr........, ce t.-no<s "l'lle aim should be 10 obtain ddinitiw di,lgnostic
~oma Nolrofibroma
material and procct,xl swiftly 10 definilive tre.ltmenl.
;;"''I'''liC C',Sf Bn"Choger-oc C)st
HO\\oC\·er, in the C\-ent that open procedures or general
· 'kS!: ~ 'nOIIlIgI Jll <.:au:sa5 .' ''leClastll'al rrWlSS If',H.. non-
'-too s ~>OIT'.a; A....l.. ac",~ ;"1'OhOtlIaS:ic 1eUIae"T'~ anaesthetic are considered 100 hou:..udolL\. lreillmelll
with chemotherdpy m,ly haw 10 commence without
tissue diagno~is.
Q3. What investigations should be
Commencing chemotherapy
performed?
If ALL or 'lHI. i~ confirmed. then treatment with oral
• C'\R (preferably poslcrior-dnterior and lateral) steroids (prednisolone or dexamcthasone), with or
will bc cnough tu demonStrale the presence of.l withom \·incristine. mdY be :;ufficient a.s initial treat-
mass caUSIng (h~ symptoms together wilh ,lilY mell1 in the ..ickesl cases. Ilyperhydration should
associ.ned e"usion accompany Irealmem, together with dllopurinol or
• IT S«1ll of ("hl'~t and abdomen for staging may also Ur:lte oxidase to minimi.::e lhe ri:;" of se..ere lumour
provide useful addltion,ll information regarding Iy-sis syndrome (p, 414)
compr€'$Sion of the .lim'ay if J general anaesthetic
is bein~ considered fur subsequent procedures Monitoring
• [)din;ti\'t~ 't;I>SlH." diagnOSIs from one of the 'Ihe response to chelllolhcr.tpy may he dramatic in T-cell
farrowing: lymphoblastic di:;ease and lhe allendant risk of tumour
- FBC ilnd film (llldY be sufficielll ifT cell ALl lysis high Renal function Jnd c1C<:lrolytl~ should be
with high while cell COUnt) monitored 4-6-houdy illili;,rly, amI Illonitoringshould
Bone marro\\" .lspirate include a:;S(,~SIl1t'11l ofcalcium, phosphale and uric acid.
- Lumbar puncture (rarely rositivc hUI should oc Alkalinizalion ofunne to help dear uratc should not be
pcr(orrlled if possible) or
neccss..ltywith lhe aVJiI.lbility urnt(-' oxid:1:;e and maj'
Pleur,ll tap exacccbate hyperpIHlsphat<H'mi,l.
Biopsy of lymph node llIdS~: via thora,olomy
or Incdi,l~l i Ilo~,opy if l1wre :1 re no significant Problem-orientated topic:
peripheral lymph nodes
Serum tumour lll<ll'kiCr: a-fct.ul'rutcin (Arr) abdominal mass
m
-
:1lu1 human chorionic gonadotrophin (heG) A 2-year-old boy, John, attend5 the OP's
ma}' be elevated in ~erm cell tumours, which surgery with his mother after she notice6
arise in the midline dud lIlay mrely tI,cur in lhe
"
whil6t bathinfj him that hilS abdomen appe21t'5
mediaSlilllUTI
di6tended. On reflection IShe admits that
Ifone of the above inve5tig..ltions provides the defini- it may have been distended for 2 week6 but J:
tive diagnosis, then there will be 110 J1(_"t.-d to perform all
of the nthcN, the aim lwing 10 ;woid the mo~t invasive
has become more ol7vious in the lalSt:3 days. -t
There i6 no other history of note.
im·eslig.lt ions.
Examination reveals a lal'fle firm ma5e in the
right ISide of the abdomen. Blood pressure is
Q4. What is your initial management of
145/85 mmHg. Urinalye;ie reveale moderate
Naseem?
protein only.
Ihechild should be nUJ'S(>d on a high-dependencyunil.
lIe may well need e1eai\'e intubJlion and mechanical Ql What are the two most likely diagnoses?
\·cnulation 10 prolcet the airway, wilh transfer 10 an COf'MuedOWY'..eef 411
Q2, What else should you look for in your clinical • Ullra.IQund of the abdomen: 10 confirm renal or
evaluation? adrenal mass. Calcification is strongly suggestive of
Q3, What further investigations are warranted neuroblastoma.
and why? • CXR: sl;lging forWilm.<
• cr chest and abdomen: further staging may
demonstrate intra-<lbdominallymphadcnopathy
~
o •
more dearly thall ultrasound.
I;Cr.jecl!o((/rdiogram: patient is hypertensive and
Q1. What are the two most likely
Q) therefore e"idencc of hean strain should be sought.
> diagnoses?
It is important to perform baseline invcsligiltions,
~ l'he two most likely diagnoses are right-sided Wilms' dS chemotherapy may indude cardiotoxic agents,
til tumour (JH:phrobla~tol1la) and JlcurobL.lstollla. Thcsc • Blood (ests, including rBG, clotting, urea and
..,
Q. tU1llours il{"count for 6%. <lnd 7% of 101<11 p<ledi<ltrir
m<lligJ1<1ncies respectively. The incidenl<ll finding of
clectrolytes, liver fUllction tests, ferritin, l<letale
dehydrogenase (LDII) and neuron-specific enolase
ii an abdominill mass without other symptoms makes a
Wilms' tumour th" most lih~ly diagnmis. The preSCllrc
(NSE): NSE and ferritin arc tumour markers for
neuroblastoma.
>.
0> of signifirant hypertension can occur in bOlh Wilms' • Hiopsy to est<lblish definitive di<lgnosis: ultrasound/
a
oo tumour and neuroblastoma but is very rare in any
ot hn <lbdom inal tu moul". •
CT-guided needle biopsy or open procedure.
Further ~Iagillg: may be requi red, dept'nding on tht:
c
o The IUIllOur may be difficult to differentiate from
hepJlOmeg.l.ly or J li\'cr mass such as hcpatoblastom<l,
results of olher investigations, e.g. bone scan Jnd
bone marrow aspirates/trephines in neuroblastolilil.
although ;t ~hould he pos.~ihle on examinat ion to p<llpatc
above a Wilms' tumour or neurobbstoma. In addition
primary liver tumours in paediatrics are very rare. Other
rare GIU~CS of a malignant abdominal mass indude Bcdl limb swelling
lymphoma and rhabdomyos,arcoma, ilhhough the laller
usually arises from within the pelvis, Anna, a 14~year~old girl, has a 4~month
history of pain in her right lower leg. fhe pain
can wake her at night. Over the last month
Q2. What else should you look for in your
she has noticed a swelling over her right
clinical evaluation?
shin. She is a keen gymnast and her parents
Wilms' tumour is <lssoci'lted with a Ilumber of syn- have attributed her symptoms to 'growing
dromes. The presence or absence of dinical signs of pair16'. although they note she had a fall from
th...-:,c sylH.lromcs should be documentcd: for example, parallel bare 6 monthe preViously.
hem ihyr'H.:nrophy. Rtxkwith-Wiedemanl1 (m<lcroglo~sia,
umbiliCill defects, horizontal e<lrlobe crease), WACI{
On examination, ehe appears well. fhere is
(aniridia, \Vilms', microcephaly, cryptorchidism).
a tender smooth 12 x 8 cm swelling over
In addition, evidence of metastatic disease should
be sought. Mos! Wilms' tumours present as localized the medial aepect of the upper third of the
disease, The most common site for metastases in right tibia. fhe rest of the examination is
Wilms' is the lungs but this is usually asymplom<ltic. unremarkable.
Ilowever, most children with neurohlilstomil present
with advanced disease, and symptoms and signs Ql. What is the most likely diagnosis? What benign
oflcn cOllle from ~ites of metilstasis, e.g. 'panda' cye1> condition may this be confused with?
due to periorbil<ll infiltration. or from constitutional Q2. What would you expect to see on plain X-ray?
symptoms associaled with advanced disease such as Q3. What other investigations would you perform?
CilChexiil and gl.:ueralized wasting.
Q3. What further investigations are

warranted and why? Q1. What is the most likely diagnosis?
What benign condition may this be
• lInnl' ClHcclwlllmines (homov<lnill ic <lcid, IIVA,
confused with?
and vanillylmandeJic acid, VMA): elevated in
ncurobJ..lstoma. 1\ single spot sample is ~uf6cient, Osteosarcoma is most likely. Bone tUlllour~ affOlllH
412 a<; levds <He expressed il<; ratios with creatinine. for 4% of all paedi<l(l"ic mal igna Ilcies, of which Dsteo-
sarcoma and l:wing's sarcoma account for more than • ex./? allil CT dle.,': 10 look for eviden,t;' of
')O'lo, BOlh have a IX--ak im-jdenct: at 12-14 yc.m of age, pulmonary metastases (10% in ostcosarcom,l, 25%
da,"ic<llly presenting with pain and subc;equent swelling in b,·in,:;'s)
over lhe .1ffected area. Over 90% of ostOOS<1rcomas • Tedlllt"iuIII l"bdled bolle .-UI1I: if l'uggt,\tive of
arc loc.1led in the metaph)'5is (growth pldte) of bone. mctastatic lesions then these should be confinned
Aroullll 8Mo occur in lhe bone'i around th.... kntt (i.e. with \1RI
dis1.al femur, proximal tibia or fibula). In contrast, most • BO'le IIlllnult' fl5pimte~ ullli tn'P11ll16: in I'wing''i Ull 10
lwins;s s.ucomas occur in the diaphysis (mid-shaft) of 10% of palicnts haw bone marrow invoh'('ment at
the bone ,1lld only about one-third occur in the femur. diagnOSIs.
tibia and fibula collectively. Lwing's is more often
associated \, ith fever, soft tissue masses and neryc root
p<lin. It may be difficult 10 distinguish I.wing's from Problem-orientated topic:
chronic osteomyelitis on the basis of history, clinical
headache (see also p. 13)
cx,lminatiOIl and radiological findings.
TIu: benign condition which thi'i may he confused A 6~year·old girl. Lauren. pre!HlMt9 to the
with i<; O'igood-Schblter's syndrome. 111is is accident and emergency department with a
apophysitis of the tibial tuberosity. occurring in 3-week history of morning headache9 and
cbildren ,tgel! 10-14 year~. II is lIsufllly bilaleral. intermittent vomiting, having previou91y
P<lill i'i felt O\'er lhe tibial tuberosity. just below the been well. Her parents have noted that 5he
knee, .1nd is worse with strenuous exercise. '1 he tibial
appearlS more clumsy than u9ual and that
tubcro..ily i~ prominent alld lemler 10 palpation.
she halS been falling over. As a result, her
Plain X-r;ly<; 'ihould be performed to exclude other
parentIS report that her attendance at school
pathology ,llld demonstrate simple enlil!"KemCnl of the
tibidl tubero~ity only. The mndititJl1 is sdf.limiting recently halS been poor.
and re'i!XllUl'i to resl and simple analgesics.
~ignific.ml diagnostic delay often occurs in such On examination she is apyrexial. Blood
cases, as symptoms arc attributed to 'growing pains'. pressure Is 90/55 mmHg. Ataxia and past-
The 1I,nure of the pain, being both unilat~ral and pointing are demonstrated. On fundoscopy
causing w;l"ing at night, is not consistent with this. bilatual papilloedema is seen to be
It is also important not to be put off boy it history of present.
tr<lunl<l; P:lli(,llt~ and families are frequell1ly able to
rl'call epi'iodes of trauma in an attempt to explain Q1. What is the most likely cause lor thIS
symptoms that turn out to be prL'ScllIations of presentation?
Illa I ign ,Inri e:-.
Q2. What other conditions should be considered?
Q3. What investigations should be arranged?
Q2. What would you expect to see on Q4. What are the initial aims of management?
plain X-ray? Q5. After establishing the diagnosis, what general
management options can be pursued?
-
m
Osu'osarCCHna'i h:lVe a c1assic..1appearance on X-ray of
eh.lOtic new bone formalion, dcMrunioll of the ,ortex
and wrtiCOII de",uion. Thb is known a~ 'Codman's
tri,1d'. C)
Q1. What is the most likely cause for this
In £wing's S,ucoma bone dcstnlCtiOll giv(.~ rise to a
'muth-c,ltcn' <lPllcarall,C- C.onkillthi'kcning <lIsa usually presentation? ::t
OCOH'i, Ilowever, n~ bone fonnation is rare, unlike in
Ilcdddehcs dud vomiting arc lhe classical symptoms ~
osteosarcoma and in addition, the soft tissue component
of rai'ied 1(:1' ·1 his is associated with cerebelldr symp-
of Ewiug's may be visualized on plain X.ray.
toms such as ataxia, nystagmus dnd l><lst-pointing It
should l>c noted that the absence of p<lpilloedema
does no. e),dude raised IU'. '1 he most likely diag-
Q3. What other investigations would you
nosis is a posterior fossa tumour. The fIlOM ,am-
pertorm?
mon tumours at this sile are mcclullohlaSloma or
• MRI orIIII' primdry l~iO/l; to allow dCCUr,lle planning low-grnde astrocytoma, but ependYllloma is also
for biop.'>\' a~ well as a baselinf' 10 as~ess response seen A long hi<;tol)' points more to ,111 .1Sllucytoma
to ,hemotherapy prior to defin itive surgery th;ln a medulloblastoma. llowc\icr, an aMrorylOrna 413
may 1Mve beell presellt asymptomatically for some • Omtrol paill, .'eizure., or electrolyte di.</url!rlllces.
time bt:fore aCLItely presenting with a short history Seizures and electrolyte disturbances are
of raised IeI' when the tumour reaches a critical more common with tumours of the cerebral
size. Thus .l short history per se cannot reliably hemispheres and suprasellar regions respectively.
dhtingllLsh between the t\\'o. • EsrrllJlish a tissue diagnosis In most cases attempt at
complete excision is appropriale and associated
with betler outcome. Neurosurgety should be
Q2. What other conditions should be performed promptly but allowing for appropriate
considered? preoperative inwstigation and stabilization.
Ataxia Gill occur following varicella infection but this
would rarely present with headaches and papilloedema. Q5. After establishing the diagnosis, what
tknign intrammial hypertension presents with headache, general management options can be
raised IC!' and p.lpilloedema hut cerebellar symptoms pursued?
\\'ould be uncommon, A ccrebml abscess would be
unlikely in a previou~ly well child. l'he subsequent managemt'nt depends on histology
and may range (rom surveillance imaging alone ill
completely resected aslrocytoma~, to fl1rthn surgery
Q3. What investigations should be if there is inlelval growth or 1>ymptoms from the
arranged? tumour, and use of mdiotherapy and/or chemothempy,
Radiotherapy-based strat'-'gic~ ar" avoided in young
• cr head with COIllrt/SI: if ,\.\ RI is not readi Iy avai lable.
children, wherever possible, panicularly in those less than
This will identify the tumour and tile presence of
3 years of age.. because of the impact on the developillg
any hydrocephalus and will dina\(' the urgency of
brain. Chemotherapy regimens have a place alongside
referr'll to a neurosurgical centre.
radiolher<1py, particularly in rnedLtllobla~lOma, ;lnd
• AIR/ he,u/ami spille: MRI head morc de'lrly
Illay be med in young children to spare toxicity of
delint:,Jlt:s the tut110ur thim a CT head and allows
radiotherapy, by allowing dose or fielJ reductions, or
for plann ing of surgery. As a medulloblaslOma is
by Jdaying or avoidi ng il ahoget her.
the most likely diagnosis, given the history, we also
neeJ to itlldgt: the spine to look for evidence of
spinalmetastast's. Presentation of malignancy
• Lumbar pUIICl1Ire: to look for evidence of
microscopic tumour cdls in CSF. This is usually Thc list shown ill Table 51.3 i~ no! exhaltstivt:. ;\ child
performed 2~") weeks post-operatively to allow presenting several times with the ~arne problem
any cellular debris from surgery to resolve. and without a firm diagnosis should be investigated
Even presence of microscopic disease, which is appropriately.
nol visible 01) neuroirnaging. imp<ll"ts a poorer
prognosis and is therefore important staging
information to ascertain.
Paediatric oncology
emergencies
Q4. What are the initial aims of Tumour lysis syndrome
management?
This syndromt: (Box 51.3) i~ caused by the rapid lysis
.. COlllrol w!>el! 10'. I{aised Icr is caused by direct of malignant cells on initiating chemotherapy, with
inti Itr:llion of the tumour itself or Ihe compression subsequent release of intracellular contents, excceding
of other brain structures. A rapidly growing tumour renal excretory capacity and phy:;iologiral buffering
often has signi hcallt sttrroundi ng oedema and mechaniSIllS, and leading to risk of acme renal failure.
this may contribute to raised Icr Steroids such 11 is mainly seen in 'bulky' disease such as high-
as dexamcthasonc Me used to reduce oedema count ALL and NHL (especially B cell); it may occur
and provide an improvement in symptoms. spontaneously or be precipitated by a single dose of
Ilowever, raised IeI' may also be secondary steroids
to obsti"llctioll of CSF by the tumour. Urgent Prevention and close monitoring are the keys !o
ncurosurgery may be rH1U ired for a csr diversion managcment:
procedure, e.g. extraventricular drain (EVD) or • llyperhydralion before and during initialion of
third ventriculostomy if raised ICP persists despite therapy (e,g. 2.5% dextrose 0.45%, sdline) with no
414 administration of steroids. added pota~sium.
Table 51.3 Presentation of malignancy
Presentlng complaint Suspidous 'ealures and commenls
P"""!Cl'.)Igy d"e to <r.'Il'aElf'lOgIobi'l
• R€lCU'O"I 't..'>O'lllIoc:toen d..e to 10'.... ,',nre COU"-
• B'USOJ and,'Of pctcd1 00 due:o low p 'eJets
Occas l;1..e to (,1 3fJl!iCemerr 01 ~ bJ' ~ r:r 0&S5efT ~lclO fTdgnancy. ~B thaI ~
a C€ I,.es rr'(i be aqua ~ af'~ed
D.arl'etO< ~tOOIQllhan 2 em
Progrossrve cnlargement
Nonlondor rubbery nard or fv<.oo ct'\lll"octer
Supracl.1Vicular or axillary 1oc00tiOrl
Assocl3tod with other teatures, e,g ~Ior or letllargy
Hepatosplonomag:ltv
Rosptr1tory SymptOfTlS New episode or change in paltern of 'M'lOOlO
Suggesl .'9 of n'n'horacic rr.ass
• Persis:Il"': back pall1 rarer-,. innocent ... d1 Cl<en

"O::=::==== ---,"'=;"~m=1ec='=OO_=:_M::,~=':~=:"= ..
CC"C'C~'--...'th L~ a rre".astases or II <;pi1a 1""'0..-
AtlOOI'T'lc"'al'l'lBSS • Progress.." enla~
• Assoc a:iof1 'Nit't ganer<lll maIa.se, e g. l"IQT'oiastom"
~B IIt.av be p.."lIl'1 ass ana isolated "''ldir1g:.cC'C'C'C'C' _='' C'"C'' ' ':c:.:' _
=.my fT1Ol'T' "'9 neadact">e
Vorrting
Ataxia
Papilloedema
III and VI crar~al nerve palsieS (fill~9 locali71rl{j signs)
Cr3nicll r"'lOl\l(l (Ioheits
Cer"ebEllJr signs, including hlOOO tilt
Visual disnrbances or abnormal £lye m,wements
Abnom1.'ll WI"
~!otor or flAosor.,. s:g"s
8ena--oo,lI'lI ~'txh3nce
De:eroral:ng ')Cf100 pe"a'l1'ar'109 or I"""IttIOStones
roeasOQ "Q3d cir'cur'e-enco n .-fa.'"fl£
Poor leedif19 (It fa UE to lIT1.." '0 9l"lCl?Ctlalic ~
Dabe1es <15<POQus
Gre ....:h hO,"llOf1e defioeocy
PrT'.Tcociou5 P\.<bert{
BOX 51.3 Biochemical features of tumour lysis Hyperviscosity syndrome

syndrome
• Hyperkalaemia
• Hyperuflcaemla
• Hyperphosphataemia
This is ill>:.udaleJ with h igh-coUnlli?ukaemias l prcsclltill,l\
peripheral while blood count> 200 " IO?jlj, 1"',lding
10 sludwnR of WIlOUS bloud ill cerebral w"SE'ls 10
trc.lI/pn."\'Cllt rommt'nce prompt leukaemia trc.ument:
hydration, lIT,lIe oxidase and chemother.lp)'. Tr,lIl:.fuse
-
m
C)
• Hypocalcaemia
• Metabolic acidosis. if severe slowly and only if CS5Clllial for symplOlll,IIIC anaemia, :I
as this may exacerbate hnlt'rvi'>("osity_ In severe uses, -I
!eucophcrL':.i" IIlOly relieve symplOms.
• Lnsure good ren.,1 output, with furosemide if

neCCSSM)'. Superior vena cava (SVC)
• Ilrillt:' precipi',lIion: reduced with allopurinol. or
llr.lIe oxidase in high-risk cases.
obstruction
• Ilyperphosphalilcllli<l/hy)lOCakaemia' incre:tse TIlis is (,ILlsee! by rm:diaslin:tl masses (Table 51.2);
fluid", LiSt: hilemofillr:tlion in extreme cases. airw,ly ob"'n1etion may also occur. It may prc:.elll wirh
• Ilyperkalaemia: salbulamoJ. calcium R-sonium, dyspnoea, ChCSl discomfort, hoar-«:ness or cOllgh, and
dcxlroSC"jinsulin, haci nofi II r<ll io n. findings include plClhor<l, facial swelling. engorgement 415
of veins oflhe cheSt w,lll :1nd venous dilill:1lion of oplic Wilh symplOtll:' sudl ,I~ rigors, i\:.sociatcd wilh line
fundi ~edation or anaeslhesiil for diagnostic purposes flushing
is haz<trduu:. <Iud cmpiricdl In:allncnl may therefore
be based on irnilging allllie.
Febrile neutropenia
r~brile neutropenia is fewr > 38 cC and a neutrophil
Acute abdomen
"offi Ihe most common cause in a child with iln underlying
count <; 1.0 x 1O~/1 rt.'Sulting in inaedsed risk of
bacterial infection.
malignancy is neutropenic enlerocolitis or typhlitis,
~ panirularly a'"mciatt'tl with It-ukaemia, where bacterial
Causes of neutropenia
~ invasion of bowel wall leads to infla.mmation, full- • ChemOlherapy
thicknt.~ illl.l.fction, pcrfordlion. sepsis and coagulopathy
• Spinal rndiotherapy
"iii • Bone marrow dbcdSC.
c. \\;th high rnonalil}'. Symptoms may be masked by
'0 steroid use in All induction Management indudes Organisms
c prompt institution of antibiotics. resting of the bowel
in'o"
• Skin or gut flora
and do':'C monitoring with lourgical review. Most cascs • Createsl ri:.k from c,rnm-IH..1\,ltiw organisllli\,
resolw with conservam.... managi"ment. including l'5nldmtlOlllJS
o • Cram-positive organisms may Dc from a Ole.
o
c Raised intracranial pressure
o Rai:.cd ICP is d neurosurgical emergency (p. 313).
Examination
Include inspeclion of the skin. mouth. intr.wcnous
!!igh-dose di:'xam('thasollc :.hould be commcncct1 line sitcs, surgic,II :.itt.'S and perianal are,l.
immediatel)' to reducE" associated OffIema.
Investigations
• FBC and differential. CRP
Spinal cord compression • Culture of blood, urine, '11001
• Swabs of throat, now, su~plcious skin lesions or
This prescn1.5 wilh back pain, abnormal gail, sensory
c€ntralline exit sites
loss, ilnd hlil<ldn and bowel disturbance. Causes
• Plain CXR or abdominal X-ray if indicalcd by
include neuroblastoma. c;arcoma. lymphoma and eNS
symploms or sign!>
tumour:. (<llso illfc<::tion. osteomyelitis and absccss).
i\luhidi<;ciplinary inpul is Viltll; urgent .\\RI and surgical Management
decompression and bIopsy nmst prIT~d~ st~roids 10 Broad-spectrum antibiutics should be commenced
avoid tumou!' lysis under ,lllaesthetic. Perform other without del.1y:1s infection wilh c,r:tm negative bacilli
esscllti,d Ji,l!-\IlU:.tic prot.edurcs (e.R. lumbar puncture, may be falal within hours. Choice of antibiotics witt
hone 1ll,lrmw I'x:l1l1ill;llioll) umkr the same anaesthetic vary by instiluliO!l ,lt1d lural n:sisli1tHT Piltll'TnS hut
if possible. ·1·re<1tmenl depends on cause but may include must include ildeq\\atf' cover for both Cram-neg;'llive
.~lJhSCqUl:lll slcl'OiLb. r,IJiotlH:rapy and supportive blad- (including P5('lldomO'w5) and Cram-positi\'c organisms.
der and ])owt'! tmtnagl'nwnt. flt1d for 'Illacrobe.\ itl llll' preM'I1CC Qfabdominal pilin,
diarrhoea or Illltrosili'l
Supportive care
Viral infections in
All paediatric oncoloFJ' trc.lIment centrCS should h;l\'e
clcilr local guidditlC:' forsupponi\·c management, which immunocompromised patients
should he rl'ferred to for d~t,lils. 'I hi:. :.ectioll should not If there hds been vtlricdla mSlcr (VZVl COlll<ln and the
be rCKarded as a substitute for such guidelines. patient ilo IlOll-it1llll11tli", give prophylactic acic10vir or
zoster immune globulin. ACtin? chickenpox or shingles
should be trc,ltLxl ,lggres!>ivcly with inlr:wenmti\
Infection aciclovir I!erpes :.ilnplex (IISV) may cause painful oral
l'eVer should be lfealed as an emergency, as inununo- ulceration; treat early witb acidO'o..ir. Cytomegalovirus
compromised children may succumb to overwhelming (C"W). adenovirus. respiratory loyllCytial virus (RSV)
sepsis within houn.. Cre,ltest risks are associated and adenovirus may all caus.? pneumonitis. associ.lted
\\;th (QUill nadin;, usu,.lly 10 days into a course or \vith high morbidil)' and monality. especially in Bh·rr
chemotherapy CenlT,lI wnous catheler (eVe) infection patients. Other antiviral therapy may be employed in
416 should be considcrt.'d regardless or counl, panicularly these C1se5
Fungal infections • Ilrsl line: domperidone or meLOciopramidc
• Second line: add in ondansctron (5-
Consider in prolonged febrile neutropenia and treat hydroxyuyptamine (5-1 n) ,mlagonist)
promptly Clinical spectrum includes pulmonary • Dexamethasone: a useful ",djuna
.1l>pcrFJllosis, hepal ie(II nl! ididSis a lid abscl""S (ormiltion_ • Cyclizine: may be panicularly useful for children
Risk is highest during lntensiw chemotherapy. such with eNS tumours
as re-induction for relapsed leukaemia and following • Nabilone or chlorpromM-inc in severe cases.
BMT. Mortality remilins high. ,,[though it L-, reducl"d by
newer ::lgellts, e.g. liposomal amphotericin. Prophylaxis
is used in high-risk treatment regimens. Nutrition and mucositis
Good nutritional status i~ c~sellli<ll for r~owI)' from
Pneumocystis carinii Uiroveci/l chemolhcrnpy, ~urgel)' and radiotherapy, but is com-
promt~ed hy the pr{'S('nce of malignancy, din.-'Ct c(fcr~ of
pneumonia (PCP)
treaunent on appetite ilnd ttl"l('. mucositis and mfection
111tl"r.>tilial pneumonitis, associated with prolonged Mucositis may be cauSlXl b)'chemotherapyor radiotherapy
immunosuppression. presents with taclwpnoca, dry and rnay cause significant pain and didnnoca. Trc.llnl<.'111
cou~h and oxygen l\."quircmcllL Co-lJimoxa7.o1e pro- includes analgesia. often ,'\-ith opiates. good oral hygiene
I)hylaxb is USllilI for palients on chemotherapy lasting OVCI" and antiseptic mouthwol."hes to reduce infection.
6 months Treatmenl in",oh-es high-dosc co-trirnoxawlc f\.asogol_\tric or gastrostomy feeding should be clllplO)'(-oJ
dlld SIL'foids in severe cases. early; tOl.11 p.lreillcral nuUition (TI"'I\) is used nnly when
the cnteral routc is in:ldt'<llt:lle.
l';Ible 51.4 summari7.es management of cummon
Haematological support symptoms.
I-he usual tlm:shold for hlood transfusion is 8 gldl
but teenagers are often symptomatic .It hilo\bcr levels.
CJutioll should be used i(lhere is high-count kuk<temia, Palliative care
IOllg.~t<mdillg anaemia or hean failure Platelets should
1"'•• lIialiw care is the :letive IOta I care of patiems
be maintained abo\;(' 10 x 10"/1 if me
pdtiellt i.!> well
whu<:e di<:ease is no longer curable am.! \,ho<;(: I>rog-
or 10 x lO~/l if ft..iJrilc or for minor procedures (e-g.
nosis is Iimited_ It tIl~cds to cmbract' l>hY'llCal. emo-
lumhar punaure), bUl higher for brain tumours, dfter
tional, social and spiritual needs of children and
significam bleeds or for major surgery. Thresholds may
their familieo;
Vdl)' betwccn institutions and shoul<I be overridden
Children \"ith Cdncercoll~titl1lCthe larg~t p,Il~,h:uric
in tht: ~"t'lll of bruising or bleeding. I\I00d products
group f(.'<llliring palliatrvf' care and over one quaner
should be leucodepleted to reduce virdl transmission
will die, mostly from progressive disease. Recognition
Jnd incidence of reactions, which mil}' be tl'e:H.:d with
of the appropriate time to stop acti\'e 'nmui\'t;" treat-
antihi~la1l1itH' and/or steroid. Irradiated products are
mcnl is dlways diffi.ul1 Mid is compounded by
reqUired in ceTlain circumstances, such ilS following
differing views of family members and profcs~innals.
BMT J-lId ill patients with Iludgkin's disease.
Palliative treatment rudY ~till involve chemotherapy.
Renal toxicity
Glomemlar or tubular loxicilY may result from
rtIJiuthcrapy or surgery, ,,~ these may be effecti\"£' for
symplom COnlrol_ /l.1any f.lmilies arc willing 10 ex!)lore
experimental treatmentS, a~ part of ph<lw I or II Slll-
dies. at a time when conventional lTe.ument has no
-
m
Q
chemotherapy, antibiotics and antifungals. particularly
in combination. Close attention should be paid 10
mort' to offt'r Death from complications of trcatmCill
is more Itkely 10 be rapid, with limitl..x1 opportunity for
:I
ekctrolytes, including magnesium and phosphale preparation_ -l
11:'\"t'ls Ilypercalcaemia rarelycomplicalesdisscminaled In discussions with famt1i~ an honest and open
paediatric malignancies. approach is essential and urdul consideralion should bI:'
giYcn to the nl..x.xls and wi~hf:'''oftlll:'child It i" impoTlam
10 t>t11!>hasi/e that the focus of treatment is dmllp,injo1, to
Nausea and vomiting
quality of life and symptom control. Families should bI:'
Chernothcrdpr variL'S ill its etnetogenicilY, from or<ll discouraged [rom keeping the truth from older children
atltil1Wlaholitt'S and vil1cri~tine requiring no prophylaxis, through their desire to protect them, as this is likely to
10 Clspl:uin and ifosfamide requiring multiple agents. create problems of trust '''hen the truth can no 10llger be
Aim to PTC\"t'nt rather than treat $(.'\'ere ~i)'mptom~: hidden. 417
Table 51.4 Other common symptoms and examples of treatment
Symptoms Treatment options
NallSea, vomiting Oompendonc, c:yd'zifle (partk;ularty lor roised ICPl, levomeprornazine. ha!op€ridol
Consllpatlon laxatives when startll'lg opio1Cls
Use less constipating opiates where possible
Bowel obstruction ArltispasnllXlics, stool wftenCfS, octreotide reduces secretions and vomiting
Con\IUlsior1s, cerelxal irritation, DIazepam, midazoom
termillal restlessness
Spinol cord comfXession (lexamel!lasone, radiotherapy, bladder and bowaI management
Non-phal1l1aCOlogical measures (position, r~aXl;ltioll, play therapy, Ian), opioids, benzodiazepines,
oxygen, steroids
Excess secretions Hyoscine, gtycopyrronlum
Anxiety, depres5ion Diazepam k:lvornepromazino or amitriptylline
Cimetidine if due to disease
Antihistamine il op4O<d·induced
Haematological Anaema, huemorrhage, bruising; transfuse only for symptomaloc improvement and quality oi lite
Topjc:al tranexamic: ac:id or adrenaline (epinephrinel for trouble9OO'T1e rn..o:;osal blooding
Organization of care • Combining different agents is more effective than

escalating dose of single one.
Few children will h,we their pallLnin>: care coordinated • Adjuvants arc <ldditional drugs used in pain
by a paediatrician specializing in palliative care. The management. They include gabilpentin for
role of the multidisciplinaly team is vital and may neuropathic pain. antispasmodics (hyoscine,
include specialist nurses, sm"ial workers, psychologists glycopyrroniulll), muscle relaxants (diazepam) and
and play therapists. with the medical lead taken by steroids.
eithcr a general or a specialisl paediatrician supponed
by the CPo Most childrm die at horne, through family
preference, but some prefer to be in a hospice and a Specific malignancies
minority in a hospital ward selling.
leukaemia
@ http;/lwww.act.org.uk
Leukaemia is the most common malignancy ofchildhood.
ASSOCiation lor Children with Life-threatening or
Terminal Conditions (ACT) Approximately 8()<lJo of caSt'S are acute lymphoblastic
leukaemia and 20':>;" anJle myeloid kukaemia, other t}1Jes
being rare, lhe risk of developing leukaemia in I)own's
Symptom control syndrome is increased 30~fold compared with the
Symptoms will vary according to di<lgnosis and should general population.
be anticipated as far as possible, with the aim of
correcting underlyiug Gtu~es, such as constipation <lnd Acute lymphoblastic leukaemia (ALL)
infection. eood communiC;lIion and consideration
ALL has an annual incidence ofabout 1 in 25 ODO children,
of psychosocial and spiritu<J1 factors will contribute
with a peak age of 2-5 years. It result:; from malignant
to good call1rol, which Illay include pharmacologiGlI
proliferation of 'pre·t:\' or T-cell lymphoiJ precuThol1>.
and l1on-pharmacologicill me:lsures. See Table 51.4 for
Mature U-cell AU. is a separate entity that is treated with
comlllon symptoms.
more intensj\"e chcmotherapy, similar to B-cell NHL TI1C
cause of ALL is unknown, but genetic predisposition and
Pain
patterns of childhood infection may account for some
• Stepwise progression is from paracetamol and non- cases. Most present between 2 and 6 years of age.
steroidal drugs to opioids of increasing strength.
• Oral roUle is pn:ferred; transdcnnal route Clinical features
employed for some agents. Presental iOIl is of shorl h istolY (days/weeks) of sym p-
• Subcutaneous infusion is used for the terminal toms reAeoing pancytopenia, pain (bone marrow
phase, often in combination with antiemetic.'>, expansion) and lymphadenopathy (Table 51.3). Clini-
418 sedatives or ;mticonvulsants. cal examination should include tesles in boys.
Investigations low-risk 'lIld B.'vtT for higheHisk G1~'S. Curl' rdl(~ arc
Ihese include bone marTOW examinallon and ~I \'ariable bUI high~t in isolated elIlr:llltl'dllllary rel.lps<'
for CYlospin (CNS in\'okcmCllt is rare). A CXR will more than 2 ye.lrs off Ireatmelll.
exclude a cuncomitant mcdia:st..inalmaSli,
Acute myeloid leukaemia (AML)
Management
TrCdl/ncnt ill\ulves remiSliion induction, consolidationf AMi results from lhe malignant proliferation of Ill}-doid
C'l",-dire<u:d Iherapy and then prolonged mainlenance or non-lymphoid precursors It is '>ulxlasslfied by
with one or IWO intensive blocks durinf:t Ihe first year. morphology, according to the 'FAB' (French. American,
Induction lasts for 4 week!; as an inpatienl and British) dilSliification, Mt 10 "17, each with different
the alln I~ 10 ha,'e a morphological remis.!.ion (< 5% behaviour and cytogenetics ravourable prognosis is
blasts) when Ihe bone marrow is reassessed ilt d.l)' 28, associated ''''ilh transloe,nions 1(15;17), t(8:21) and
TIle cun'Kllidalion phase provides eNS prophylaxis in,,{ 16), and poor prognosis with lI1uno~ollly 7 or
and Include" weekly doses ofinlrdthecal methotrexate. cOlnplex abnormalities.
Maintenance phase involves continuation treatment 10
d tolJI of2 or 3 years for girb or boys re~pccli\ldy. Oral Clinical features
chemolherapy inc1l1dt:S daily 6-1l1ercflptopllrillt~ (6.MP) This is silllilar to AU .. l.ymplMlknopalhy i~ Ic~~ pro-
and weekly methotrexate; doses are adjusled according rninl:'lll <llld intrdthoracic and extramedull:try disease
lo blood mUlIl, aillling for mild 111<1rlUW ~uppres."ioll are also less common than in ALL.
withollt prolonb'dl ncmropenia. I'mierlls allend for
monthly intravenous vincristine with a 5-day pulse of oral Management
dCX.dlllcl1lt1sonc ;Illd 3~monthly inlfill1ll..'Gllmcthotrexatc. rrl:'alll1l:'llt dIffers fundamelUally from that of AII~ Fouror
Intensive blocks of chemothernpy interrupt the first five courses of intensiw m~-dosupprcssivcchcmolherap~
year of maintenance, wilh combin:mons of oral, ar(' givcn, ..... hh no prolonged nl.lintcnanC"l' Ilwrapv
inlravenous and inlrdlhC<ill chelllOlherdPY. High-risk Cils..'S, including lhose slo\'.' to respond, are
u.msplallled in Ihe first remission
Prognosis
Prognosis is improving steadily and overall SUlVh'al is Prognosis
....SOC.O for '>'andard-rbk patienl'> with Cllrrenl Ireal menl. Prognosi,> has impro....ed dramatically due 10 mtensi\"('
Ad'-erse prognostic indicators .1ft listed in Box 51 4. trealmtnt and supponive carl', wilh o\'Cr.l1l survival
Molecular lechniQues arc currently being dC\'Clopcd to marc than 6Ql14>. RdapltCS may be ""lv,lgcd with I~'vt I'
~"':llu,lIt" minimal residual di~St' (\I1I{D). which allows
the detection of low levels of dise.1St, undelectable by
cOIlV€'lllional morpholoro'. This may lead to slralification Lymphoma
of tn.:,llmclII tlccun.ling to risk
I{clap....d Al.L may be confined to hone marTOW Lymphomas arc maliRllant prolifcr"lioll.~ uflymphoid
prenll~m cdl" at various stages of differemi:nion.
or involve extr,ltllooullary sites (m'linly eNS. testes).
Trt',]lIIlClll involves intcnsivc reindurtioll <lnd ronsoli- Ilowever. non-Ilodgkin's lymphoma (NIlL) ,lIld
HoJRkill'~ dblC,ISC arc Ji~tincl disease t'litilit"~ alld differ in
(huion for all. with a (unher 2 y<'a~ of maintenance for
BOX 51.4 Adverse prognostic Indicators in

childhood leukaemia
tl:'rrm of 11mur,d hislory. presentalion and management
Hath are more common in m.lles than fem'lles.
Non-Hodgkin's lymphoma
-
m
Cl
• Male gender
Clinical features
:I
• Age < 2 or:> 10 years
• H gh white cel count (:> 50 x 10"/1) at diagnOSIS rresent:Ul0n vanes according to sile, including pal- -I
p.lble lymphadenopathy. pain. obstruclion or .lS("i\('S
• Unfavourable cytogenetics:
- Philadephia chromosome: t{9:22) from alxlnrninal mass, respiratory '»mptoms or SVL
- Mll. gene rearrangements' e.g.l(4:11) in infants obslruction from mediastinal mass, and panC}10pcnia
- AML1 amplifICation (Table 51.3).
• Poor response to induction treatment
• High levels of mln.mal residual disease at end of Investigations
induction' InvesT1g,ltion lllcilldes bone marrow examination,
lumbar puncture, inuging according to site, biopsy for
· $eetelCt.
hislology with imrnunophcnotyping !Illtl 0'logeneli(s 419
I h~ majority 10 childhood :tre high grade tumour~, Stage III :> I "Ill' of disease, on both side:s of the
divided according to histology, illllllunopnenotypt' diaphragm
and cytogenetics: Stage IV Disscminalt.x1 diSt---:l.M:.
• 1.!'mpllObl'IWc; (<)0% ",cell, 1004" prE' H): )0%
of '1111 cases \105t present with an anterior Investigations
mc<!i:tstin.ll mass Itlhere arc> 25% bldsts in bone 11lt:~1':
Me as for '\JIll, withoUl lumbar punClllfC but
~ marrow. thcn di"Cdst: is regarded as All mcluding EBV serology.
Cll • AlmUfe B (ell (I\urkiu's or ;}t}'pical Burkitt's):
()
<ll 50% of cases occur in the <Ibdoll1cn, head and Management
> ncrk, bOlle Ill(lrrow and C~S, and may grow very Stage I disease may be cured with either involwxl field
~ rapidly_ Indemic or African Burkilt'~ is f1SS0ci:'lICJ radiotherapy or tI SllUrl cuulse ofchelnolher.1py. All other
wilh carly EP~lciJl-Barr virus (LlW) infection and sta~t.~ require chemotherapy, which usually includes
iii
c. frequciltly affen~ the jaw, a site rarely im'olved in significant doses of anthracyclincs and/m 'llkylatillg
u "poradic disease agents. The additional use of radiothernpy is subject
c • AIl"pl,mif I'lf>:t' a'lf 1)'lIIpllOml/ (AI'cI.): < 20%1, to national and institutional \'dnation, but is usually
Cll
>. cmployal in bulky mediastinal and disseminated
8' Management
Ivmphoblasti( (I cell, pre-8 cell) lymphoma is u('att."(]
disease, as well as in resblillll or relap'ied cases, when
further intensive chemotherapy is also indicated.
"8c similarly to its ALL counterpart", m'alllll':lH lasting up
o to 2 ycar", Prognosis
Malure H cell dise.1SC and ALCl arc tr('aled with Overall survival at 5 years excceds 9()01o, ranging from
short series of dosc-inlCllsiw chemotherapy, including 70% for stage IV to 97% for stage l.
~igllifi"1I11 dme~ of alkylating "gents The risk of l.<lte effl':cts remain a significant COllCCfIl, as both
tUf110ur lysis is high radiotherapy and the chemOlhcrapy regimens carry
risks (p. 407).11H.~ role offunctional imaging with rl:T
Prognosis scans shows protl1i~€ in Ilodgkin's disea~c and may
:>.-Iore thiln 70% ()f children with NIII sUlViw owrall help to identify good-risk dist'asc requiring less toxic
,mJ ovt'r <)()O/o of cases \vith localized disease survive Ire.ltment.
with limited trealment. Relapse tends to occur early
,\Ithough the curf' rate for primary "Ill, is high, salvage
oplions are limiu!'d and few relapsed patients survi\'e.
CNStumours
Rmin tumours arl': Ihe most common ~olid tumours,
as they constitule 25% of childhood malignancies,
Hodgkin's disease but they represenl a wide spectrum of histological
Ilodgkin's disease is characterized by the presence of subtypes with widely different features, managelllclll
neoplastic Rt.-cd-Slernl)('Tg cell., ill a re"rtive lymph node and olllcome:
illflltrale.lt is milch slower-growing than NllLand rare • lnfratentorialtulllours predominate (> 50%),
under 5 years, incidence rising wilh <Igc. Some cases show usually associated with raised Icr, hC<1J<1chcs,
t.'\Iident.t: of lJH;vious LIlY infection. Ilodgkin's disease vomiting and cerebellar ataxia.
i., classified as classical or lymphocyte-pn'dominant; • Supratcntori<lllUIllOUrs present with r,lised Icr
Ihe lalter usu.llly invoh'('S localized disea"e and has a and/or focal signs according to site, hypothalamic/
beuer prognosis, (limitary dysfunction or visual impairment
• Primary spinal tumollrs are \'('ry rare and
Clinical features are managed similarly to their intracranial
l1tere is progr("i".,ive painless lymph node enlargement. counterpan.s; they rna)' present with (urd
celVlcal in around S()OIb, mediastinal (oflellasylnptomatic) compression (p. 416).
in 60%. DisscmilldtiOll to other organ'> ocnlB lale. h?VE'r, • eNS meta'>ta~ of t'Xlr.1cranial tumours arc filrc in
IlIght '>wl':al'> and weigh I loss constitute 'B' symptoms, children,
which are more common in ad\'allct."t! sldges. Delay ill diagnosis is common, as few cases present
cl .. s~ically. lur every childhood brain tUlllour there are
Ann Arbor staging around 5000 children wilh llligrilinc.
Stage I Sill!iJe sile hwolvcment of the ftlultidiSt.iplinary team is Q?ntrallo
St<lgc II :> I .,itt' of disease, on one side of the Illdnaj;,'Clllcnt a lid :ohmlId involve neurosurgoons, paediatric
420 diaphragm oncologists. radiotherapists and cndoail1ologiM_"
Initial management Primitive neuroectodennaJ tumours (PNETs)
• Di'lgnostic imaging' CI' provides essenlial (-25%)
informalion for emergency managemellt of 111is is IIIP most common group of m.lligJldllt brain
hydrocephalus MRI provides bcucr tumour tumours of childhood, \\lith peak incidenct> at 'i }'f'ars
Jdinition wmhim:d with spinal imaging for The majority occur in the cerd>ellllm (whf>re Ihey arc
Magmg ca.lk-d ml-dulloblaslOllla), and present with raised
• 1t.1ised ICI' requires prompt managcmelll, r(:1' and alaxia. Supr.ltenlorial PNLl's, including
pMticularly if on..,e1 i.., rapid: prompl referrdl pineoblastomas, have a wo~c progno'>ls Cl'll'-bome
and Irilnsfer 1O;l p;lediatric neurosurgicdl unit, lllclaSl.ISl~ orcur in 10-15% of cases. I'.xCh,iOll ,lilt!
using dexamethasone to camrol oedema. and cr::lniospin,ll radiother;II)' form the hiiSb of lrt',11ment,
i11lClISivc carl' IJ n il (I Col J )/venti l::llion in severe but chemotherapy providt's further benefit. About 70%
rases of loc;lli~t'd cases are cured but long·lerm morhidil}"
• Initial surgery may involve CSF diversion only from radiotherapy is significant. particularly in young
(Illin.! "entriculostorn}' ur extcrnal ventricular drain patients.
Itl rdic\-e hydrocephalus), or biopsy or complete
reseelion. deJl('nding on location and likely Ependymoma (-10%)
diaF,llOsis. EpendYlIlomas usually anst' in and around Ih(.' \'Cn·
• Oiller inve,>tigations may include CSF cytology and lrid", with presenting fC.1tur..-..s according to sill" of
tumour markers. ori~n but usually induding oh"'ructiw hydrocephalus
• Postoperative S«Ul wilhin 48 hou~ of surgery Completc surgical ~>:cision confers the best OUlcomc
il\'oids confounding anefaci from post-surgic.ll (> 70% survival, compared with < 50% for thow in
change (haematOm'l/ocdema). whom complete sUlgicdl eJlrisiol1 i~ not p0o;sible) and
involvcd field radiolhcrnpy i~ dwn given. ChemOlhef3py
Low-grade glioma (-45%) ll1ily dtday or occasionally remove th..: l1e..:.1 for
Most have histological characlCristics uf piltX)'tir astro- radiolherapy in younger p,llients.
cyhllnd (gr.u.lc I) and behave in an indolent fashion, with
v:l riable responses to lreatment. Outcome depends on si Ie. Craniopharyngioma (5-10%)
with cerebellar tumours usually cured by surgery alone Crtllliopharyngioma i~ a ,>Iow-growing midline bcnip,n
lInrese<Ublf> cases Ihat progress or are S}mptomatic, epithelial rumOIlT that arises in the suprasdlM ,Irea
such as optic pathway or hypothalamic gliomas with from remnants of Rathke':. !lOuch. Tre:lImem invoh1'.'S
dicnc(.'phalic syndrome or thrt-'lI1 to \li~IOn, are tre:lIOO complete rt'SCCtion in 80% and p.ani.1I rescetion with
wilh chelllOlhernpy. It1(hothempy may be employed in focal radiolherapy in the rcmaindt-"f. M.IIMb'i."Il1CIll
older children, excf'J)1 in :-.IF-I-associated C.ISCS ("'50%), of complications of tile dbea'l(' and lb lTe.1Imf>nt
in which the risks of S<."Colld primal)' IUITlOIJTS and - induding damagtC 10 lhe- hypothalamus. vision and
cCI'ebrovascular complications are increased. beha\'iuur - rt:milins Ihe ~reatesl dlaJlcngc, p.lltiruliHly
ilS most become long term sUtvivors.
High-grade glioma (-10%)
Ihese may be World Ilealth Organization gmde III or eNS germ cell tumours (5%)
IV, They occur prcdominamly in older rhildren and
tel:'ll:lgo:TS, ami supratentori<ll sites predomin.ltc. They
are lI~llally incompletely resectable and cure is rarely
.lchie\'cd. RadiOlhcrapy is the treatment of choice but
-'0& 111(':'1:.' are descri~d on Ihe tdastcrCoursc wd>:>ite.
Neuroblastoma
-
m
C)
rC'il'nnsl'S <Ire rarely sustained and chemolherapy is of
hmltpd benefit- N"eurobl"slomil is a mahgnant embryonal tumour
:I
derived from the neural crcsi and represents 7~() of -I
Brainstem glioma 5%) « childhood malignancic:.. It hilS iI medidll agl" of onst't
Illlfill~ic pontinf> gliomas are usually diagnosed on of 2 years with the maJorilY of cases arisinR in thc
charaeteristic MRI appearances alone. 'n1q' are high- adrenal glands, abdomen or thorax. usually l'e1ated
gr,ldc and il}opcmb1c. all(\ 1111:.'ir rc:sponSf> to radiotherapy to the sympathetic chain, Small numbers occur in the
is \'ariable and shon-lived ChemOlhef:lpy has f,liled to pelvis, neck and clsewhere. Di'>ease is often adv.lIlced
improve median surviv:ll of < I year. Tumours ~rowing al diagnosis with metastases to Donc, bUill' rmll 1'0\\1,
out\\I.lrds from tin: urJimleltl (exophYlic) may be low- liver. and occasionally eNS <lnd lungs. 111{'re io; a wide
grade ,md amenable to biopsy wilh Ic:ss morbidity, and spectrum of behaviour according to age of patient and
have d helter Olllcome discase '>t<lge. 421
Clinical features BOX 51,S Adverse prognostIc Indicators in
I'rc'>t'rHatiotl i" oftt:n non-spt:cific, dt:pt':nding on "ite, neuroblastoma
"[Head and metabolic efleCls·
• LymphJ.denop:l1hy or palpable masses • Age> 1 year
• Compl'ession of slructUl"I.-'S, including nervcs (e.g. • Stages 3 and 4
Horner"', spin<tl cord), airway. veins. howel • Raised tumour marl<:ers: ferritin, lactate
~ • I'.mcytopenia
dehydrogenase (lOH), neuron-specific enolase
<0 INSE)
() • Bone p.1in, limp
• \weating. p,lllor, wawry diarrhoea and hypenension. • Unfavourable histology
~ • Cytogenetic abnormalities: MYCN amplification,
~ Investigations
17q 9a n, lp loss
iii Specific di.lgnoslic teslS include.

c. • Imilging of .iffc("ICd arca for ..taging I)urposcs (er
"0 or \IRI) h}1>enension are found in one-Ihird. Mmltumours dre
C
<0 • Urine \MA/IIVA creatinine ratios (urine localized at didgllo"is bUI lung metastases may occur
>. cdtcrhul,Ullilli..'S); r,li"i..'d in> SM-O ca<>es and may ~ Bil<lter.l.1 {slage 5) disease accounts for 10% of CiiSCS
OJ u'it"d for monitonng of disease progress and is Tllore likely to be .lSSOCi,IICd with an inheriltxl
o predisposition (p. 404).
(5 • 'I mlllG uptake by primary tumour and
() IIICtdsldSl."S, in the IIl<1jorily; if ncgativt' for primary,
C
o """Ic bone M:<l.n IS required Investigations
• Bilaleral bone marrow aspirates/trephine; {disease These include:
infiltration liMy be p'llchy) • Abdomin<llullrasoulld
• Biopsy of It"iion • cr scan of abdomen
• CytOgenetic analysis of biopsy, bonc marrow and • CXR or cr chest
blood. • Urine ciltcrhol,lIl1incs 10 exclude neuroblastoma
(prior to <In:teslhellc)
Management • rull blood count ,lnd coa~ulalion studiL"S (a
Trc;llmelll rnngcs flOm SlIrgCly only for resmable localized transiclll acquired \'on Willehrand-like syndrome
bUbO(' I) rWllrohlaslnlll<l to induction chemotherapy, is recogni;<..ed in 1% of cases)
surgery; high dose chemotherapy with autologous stem • Biopsy.
cdl rescue .tntl r,idiothempy in stagc 4 (di~emimlled) and
MY(,N-posili~.,SI:lb't-' ,,\ (1i~'<lSt".
Management
Infant neurobl."\StOlllil charaCteristically presents with Definitive surgery usually follows a short cour~ of
dissemin.ltoo disc.lse restricted to bone llIarrow, liver <lnd chemotherapy. Subsequent trcatment depcncb on Sl<lgc
~kill (~t,IIo\C 4S), which lI~lIally rl,:>olvt:S spontaneously;
and histology, r,lJ1ging frorn a short wurst' ofvincristine
cht'tnntlll'r,lpy i~ only required for life-threatening 10 6 JIIonths of three- or four-dnrg anthracyclinc·
~ymptoms.
hast'd chemotherapy. Itldiothcmpy is required for
incompletely rest.:rll'd di~t:<ls{, and most cases with
Prognosis lung lllt!asl,tses. In hil:tteral disease (stage V), the ilil11
Disseminated neurobLlstoma is only cured in 20-30%, is lO maximize response 10 chel110therapy prior to
dl:.'!ipile irncn"iw lrt',lllllt'lll Slirvivill in low-stilge c<lses pcrforrnirl~ I1cphron-spMing surgery to avoid the need
in infants is more than 90%. Adverse proF;nostic for dio:tlysis.
indiGliors Me listed in Box 51.5.
Prognosis
Wilms' tumour O\'C'rall survival ranges from .... 70<>;0 for ~Iage IV disease
to> 95% in "Iagl' I. Follow-up should include regular
Wilms' tUllluur, or nt'phrohlaSIOTlla, is an embryonal CXR as well as abdominal ultrilsouml, as pulmonary
tumour of the kidney accounting for 6% of childhood relapsc is 1lI0rc com mOIl Iho:tn loe:tl recurrence
mali~n.1ncics. Around 75% of caSCi occur in patients Other renal IIlmour; are rare in childhood. ,,,tcso-
Il.-"S" than 4 yt:aT~, blastic nephroma occurs in infants <lnd mOSl else-; eln
be cured with surgery ,llone. CleM cdl sarCOTll<l requires
Clinical features more intcnsi~'C treatment than \-Vilms' tumour, and
Prl.-'Selltdtioll is Illost cOllllllonly as a \'isiblc or palpable nldlignant rhabdoid IUmour carries a "ely lX)()r
422 mass, oflen p<tinl€'>S, in <I well child. Ilaemamria and prognosis.
Osteosarcoma and Ewing's childhood malignancies. Most Cil:;\:.,:,> o<cur hefore the
sarcoma age of 10 years dnd are sporadic.
Hone tumours are rare in childhood.•lCcounting for

Clinical features
4% of all p.lediatric malignancil..'S.
Incidence increases with agt'. Ill.-aking in teenage
In is depends on site, mostly bl"clda, pelVIS, naso-
pharynx. par<llllcningeal or paralestlS, ,\od m,ly include
YI..'aTl> and {,ilTly <l<luhhood. 'I"he majority of C.lSCS are
p<llp<lblf' mas~, pdin or bladder outflo\\ ub~lrunion
OSteos...u(ama or Lwingssarcoma. histologirdllydistinci
.\·Ietastases .1TC uncommon.
and ""ith differing pal1erns of disease and response to
IrCJlmt'nl !"lUI with m.:my common fculUrcs. All cases
~hollrd be referred to a specialist bone tumour (cnlre Investigations
for surgic.ll 1113lMgCtnel1l. Diagnosis and stdging involve:
• Illl'lging of primM)'" ultrasound, folJo\'...:d by
Clinical features staging CI or I\'IRI
This is with p.lin, swelling, IMlholngiral fracture, and • Biopsy: for h btology and 11101enl br cytOgenetic
mrdY(lVt'rl}'ingerylhema. OsteosarCOma occurs mostly all,llysi~. J\lwolar RMS is associated with ,1d\'f:I'~f:
in long bones Jnd around the kncl.: in 80%. 111 Ewing's prognosis and is charactcril:cJ by lilt: prt'~t·nCt· (If
the ,lxi,ll (eemT"I) lokdcloll is involvt:(1 more oflen and t(2; 13) or t( 1.13), which produce fllsion product~
lhe pdvi.\ il> the most common site. DeJay in diagnosis of PAX and j-KI m genes
is a (ommon feature. Metastases arc morc (UlIlmon <11 • Bone marrow examination
diagnosis in Ewing's (25%) than oSlemarcoma (10%), • Uone scan
ilnd ill lungs more commonly than bone. with bOlle • Lumbar puncture for paramenill~cal Ji~d~.
marrow met,\Stilses in Ewing's only.
Management
Investigations
TrCatmclll invoh-t"i 6-') COUfS/?S of combin,lIiOll chcmo,
Diagllostic in\.l'Sligations include~
th"rapy. Some cases achieve complete rt'lIIi~..i(Jn \\ilh
• Plain X.rays of bon)' lesion
chemotherap}' alone. Surgery for arc~~lhle Sites (pard
• ~IRI of primary site to define e"lent of tumour and test.icular, I>criphcral) <XTIIT5 after three or six COUfSCS
did surgical pldnning
of rhemotherap}' RJ.diotherapy is abo rt'i.luifft! In r.1o;;e<\
• Dpfiniti\."e diagnosis requires biops}'. which should with residual dht.'<I5e dml for alwobr hlslOlogy.
be carried out at a specialisl cemre where definitive
sur~l'ry will be performed
• CI chf'~t Prognosis
• Isotope bone scan 'nlis dep"ll(l~ 011 risk faCIOrs and r,1nRcs frulll Mound
• Rone Illdrrow a~pirates ,md trephines (hil:tlf'ral): 10% for nony metastdtic discilse to ovt:r 71)O/u for
I.wing'i> ollly complelely excised Pilfillcslicliiar tUIllOUrs with favour-
able histology. Illt: outcome for metasl:ltic rd,lpse ,mel
Management locill reolrrena within a previom r,ldioIlHT<l)lY lidd is
Surgery. with the ,'i rn of limb prei>crvatioll, is preceded extremely poor.
and followed by cheJl]uther"py ill all C,1<;e~. Prostheses
dfe dt:signed to allow lengtheninR as lhe patic'lt grows.
~adiother.\py is all effective adjunct and alternative
to surge'y. pMticularly in axial I·wing's. Out its role in
ostl'O~"'-C(J"'a i<; rt'~lricted mainly to palli,ltion.
Rare tumours
Many other forms of c.1.nccr occur ill children but all
-
m
C)
arc very ran.:. TI1l.1' indllde~ J:
Prognosis Germ cell tumours
Relinoblastoma
3% of childhood Cilncer~
3% of fhildhood c.mcers
-I
Overall sur·;i\·al for both groups is around 61)o1i>, but
ddversc oUllook is associated with large primanes, axial uwr lUl1lour~ 1% of childhood cancers
Sill':>. poor rt'SpOIl"t: 10 pl'E''Operative chemotherdpy and Hisliocytosls 1;200 000 children
met,,~t.,tic disease Chronic myeloid Very rart' in childhood
leukaemia
Juvcnile m}'elomonocytic Very rare ill d,ildhood
Rhabdomyosarcoma leukaemia
RhilbdullI)"osarcoma (R:vIS) is the most common 50ft SOIlIt' of Ihese Me deS("ribed in more detail on
tissue <;,1Tcoma in childhood and rcprc~cllts 6% of the ''''':l5terCourse \\'ebsitc. 423

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Contents

MODULE 1: Normal children and child

1. Child health in a changing society 3

MODULE 2: Toolkit for child health

5. History-taking and physical

MODULE 3: Child public health 137

14. Epidemiology 139

MODULE 4: Community child health 191

18. Childhood disability 193

MODULE 5: Common problems in primary

22. Growth: normal and abnonTIal 235

Health promotion and 17

Adolescent health and 19

What is adolescence? • Common medical conditions of adolescence

By the end of this chapter you should:

Introduction Learning disability

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He has no neurocutaneous lesions; his gait, Definition IQ Incidence Cause

Q1. What is the definition of learning disability?

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in mothers over 40. However, most babies are born to

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common symptoms are: Chapter 9.

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Fine motor problems include: Q4. What is Connor’s prognosis?

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• Impulsivity: excessive in the context of age, sex and • Self-regulation

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(3 cases) may have had a perinatal cause.

Epidemiology Spasticity Fixed musculo- Fixed contracture

Q3. What are the principles of

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Oromotor skills Q1. How would you assess this child?

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Q2. What other information would you semantic–pragmatic problems.

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ment and investigation: language disorder. Studies and clinical observation

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need to consider? Imaging

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chromosomal abnormalities behavioural difficulties, school failure and

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These <Hl'li~h:d in I~ox 33.2.

Q2. How can you differentiate septic

Osteomyelitis and septic arthritis

Q4. What are the principles of treatment of

6. Psoriatic arthrilis arthritis (JIA)

Fig. 33.4 X-ray showing destructive changes of carpal

Fig. 33.3 X-ray of knees showing periosteal osteopenia in